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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:autosomal dominant Emery-Dreifuss muscular dystrophy 2
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Accession:DOID:0070247 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. (DO)
Synonyms:exact_synonym: EDMD2;   EMD2;   Emery Dreifuss muscular dystrophy 2;   Emery-Dreifuss muscular dystrophy, autosomal dominant;   Hauptmann-Thannhauser muscular dystrophy;   LGMD1B;   autosomal dominant limb-girdle muscular dystrophy type 1B;   limb-girdle muscular dystrophy due to lamin A/C deficiency;   muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant;   muscular dystrophy, limb-girdle type 1B;   proximal muscular dystrophy type 1B;   scapuloilioperoneal atrophy with cardiopathy
 primary_id: OMIM:181350
 alt_id: DOID:0110301;   MESH:D000083144
 xref: NCI:C126745;   ORDO:264


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autosomal dominant Emery-Dreifuss muscular dystrophy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lmna lamin A/C ISO DNA:missense mutations, nonsense mutation:cds:multiple (human)
DNA:deletion, missense mutation, snp:cds, intron:p.K208del, p.R377H, g.IVS9+5G>C (human)
DNA:frameshift mutation:cds:c.625_626delA (human)
ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B | ClinVar Annotator: match by term: SCAPULOILIOPERONEAL ATROPHY WITH CARDIOPATHY
ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant | ClinVar Annotator: match by term: Limb-girdle muscular dystrophy, type 1B | ClinVar Annotator: match by term: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B | ClinVar Annotator: match by term: Muscular dystrophy, proximal, type 1B		 OMIM
ClinVar
RGD		 PMID:262236 PMID:1849984 PMID:2007407 PMID:2338570 PMID:2526018 More... RGD:12791020, RGD:11062274, RGD:12791273, RGD:2306094 NCBI chr 2:173,939,751...173,960,423
Ensembl chr 2:173,939,751...173,960,423 		JBrowse link
G Tmem43 transmembrane protein 43 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 4:123,977,680...123,992,823
Ensembl chr 4:123,977,625...123,992,825 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18307
        genetic disease 18251
          Laminopathies 56
            Autosomal Emery-Dreifuss Muscular Dystrophy 2
              autosomal dominant Emery-Dreifuss muscular dystrophy 2 2
Path 2
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18216
      nervous system disease 14065
        peripheral nervous system disease 4113
          neuropathy 3898
            neuromuscular disease 3056
              muscular disease 2146
                muscle tissue disease 1293
                  atrophic muscular disease 603
                    muscular dystrophy 599
                      limb-girdle muscular dystrophy 198
                        autosomal dominant limb-girdle muscular dystrophy 14
                          autosomal dominant Emery-Dreifuss muscular dystrophy 2 2
paths to the root