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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 due to Partial LAMA2 Deficiency
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Accession:DOID:9007352 term browser browse the term
Synonyms:primary_id: MESH:C564317
 alt_id: RDO:0013324
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 18996
    physical disorder 2835
      congenital muscular dystrophy 79
        congenital merosin-deficient muscular dystrophy 1A 2
          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 18996
    disease of anatomical entity 17481
      nervous system disease 13545
        peripheral nervous system disease 2633
          neuropathy 2444
            neuromuscular disease 1937
              muscular disease 1270
                muscle tissue disease 869
                  atrophic muscular disease 346
                    muscular dystrophy 344
                      congenital muscular dystrophy 79
                        congenital merosin-deficient muscular dystrophy 1A 2
                          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
paths to the root