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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


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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
ISS		 associated with Dropped Head Syndromes;DNA:missense mutations:cds:p.N39S, p.R249W, p.E358K (human)
CTD Direct Evidence: marker/mechanism
OMIM:613205
ClinVar Annotator: match by term: Congenital muscular dystrophy due to LMNA mutation | ClinVar Annotator: match by term: Congenital muscular dystrophy, LMNA-related		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:262236 PMID:2007407 PMID:2338570 PMID:2733290 PMID:2753225 More... RGD:12791283 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital muscular dystrophy 177
        congenital muscular dystrophy due to LMNA mutation 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        peripheral nervous system disease 4122
          neuropathy 3906
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  atrophic muscular disease 603
                    muscular dystrophy 599
                      congenital muscular dystrophy 177
                        congenital muscular dystrophy due to LMNA mutation 1
paths to the root