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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 with Central Nervous System Involvement
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Accession:DOID:9006181 term browser browse the term
Synonyms:exact_synonym: Muscular dystrophy, congenital progressive, with mental retardation
 primary_id: MESH:C538190
 alt_id: RDO:0004132
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    syndrome 7568
      Walker-Warburg syndrome 34
        Congenital Muscular Dystrophy with Central Nervous System Involvement 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        peripheral nervous system disease 2417
          neuropathy 2229
            neuromuscular disease 1776
              muscular disease 1186
                muscle tissue disease 809
                  atrophic muscular disease 316
                    muscular dystrophy 314
                      congenital muscular dystrophy 71
                        Walker-Warburg syndrome 34
                          Congenital Muscular Dystrophy with Central Nervous System Involvement 1
paths to the root