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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:Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation
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Accession:DOID:9003009 term browser browse the term
Synonyms:primary_id: MESH:C565506


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital muscular dystrophy 248
        Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      nervous system disease 26233
        peripheral nervous system disease 5382
          neuropathy 5129
            neuromuscular disease 4041
              muscular disease 2807
                muscle tissue disease 1715
                  atrophic muscular disease 853
                    muscular dystrophy 849
                      congenital muscular dystrophy 248
                        Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation 0
paths to the root