Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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: MIM:181350
 alt_id: DOID:0110301;   MESH:D000083144
 xref: NCI:C126745;   ORDO:264


show annotations for term's descendants           Sort by:
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 Syne2 spectrin repeat containing nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 2, autosomal dominant ClinVar PMID:25741868 NCBI chr 6:94,537,088...94,848,085
Ensembl chr 6:94,537,088...94,848,064 		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 19102
    Developmental Disease 14601
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13613
        genetic disease 13275
          Laminopathies 58
            Autosomal Emery-Dreifuss Muscular Dystrophy 3
              autosomal dominant Emery-Dreifuss muscular dystrophy 2 3
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        peripheral nervous system disease 4274
          neuropathy 4059
            neuromuscular disease 3200
              muscular disease 2219
                muscle tissue disease 1347
                  atrophic muscular disease 667
                    Brody myopathy 663
                      muscular dystrophy 647
                        Emery-Dreifuss muscular dystrophy 134
                          Autosomal Emery-Dreifuss Muscular Dystrophy 3
                            autosomal dominant Emery-Dreifuss muscular dystrophy 2 3
paths to the root