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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 13584
    physical disorder 2824
      congenital muscular dystrophy 68
        congenital merosin-deficient muscular dystrophy 1A 3
          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
Path 2
Term Annotations click to browse term
  disease 13584
    disease of anatomical entity 13246
      nervous system disease 10954
        peripheral nervous system disease 2323
          neuropathy 2155
            neuromuscular disease 1722
              muscular disease 1150
                muscle tissue disease 781
                  atrophic muscular disease 297
                    muscular dystrophy 295
                      congenital muscular dystrophy 68
                        congenital merosin-deficient muscular dystrophy 1A 3
                          Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency 1
paths to the root