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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 LMNA mutation
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Accession:DOID:0110640 term browser browse the term
Definition:A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: L-CMD;   Mdcl;   congenital muscular dystrophy LMNA-related
 primary_id: MESH:C567708
 alt_id: OMIM:613205
 xref: NCI:C148369;   ORDO:157973
For additional species annotation, visit the Alliance of Genome Resources.


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congenital muscular dystrophy due to LMNA mutation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LMNA lamin A/C ISO OMIM NCBI chr 1:131,456,819...131,482,275
Ensembl chr 1:135,253,700...135,311,539
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12821
    physical disorder 2378
      congenital muscular dystrophy 70
        congenital muscular dystrophy due to LMNA mutation 1
Path 2
Term Annotations click to browse term
  disease 12821
    disease of anatomical entity 12353
      nervous system disease 10089
        peripheral nervous system disease 2301
          neuropathy 2140
            neuromuscular disease 1686
              muscular disease 1104
                muscle tissue disease 739
                  atrophic muscular disease 290
                    muscular dystrophy 288
                      congenital muscular dystrophy 70
                        congenital muscular dystrophy due to LMNA mutation 1
paths to the root