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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 Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers
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Accession:DOID:9006670 term browser browse the term
Synonyms:primary_id: MESH:C563378
 alt_id: OMIM:601170



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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21120
    physical disorder 4937
      congenital muscular dystrophy 172
        Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
Path 2
Term Annotations click to browse term
  disease 21120
    disease of anatomical entity 18195
      nervous system disease 14031
        peripheral nervous system disease 4091
          neuropathy 3876
            neuromuscular disease 3041
              muscular disease 2129
                muscle tissue disease 1278
                  atrophic muscular disease 589
                    muscular dystrophy 586
                      congenital muscular dystrophy 172
                        Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers 0
paths to the root