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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 4
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Accession:DOID:0070249 term browser browse the term
Definition:An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)
Synonyms:exact_synonym: EDMD4;   Emery-Dreifuss muscular dystrophy 4;   Emery-Dreifuss muscular dystrophy 4 with variable features
 primary_id: MESH:C567831
 alt_id: OMIM:612998

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autosomal dominant Emery-Dreifuss muscular dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Esr1 estrogen receptor 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936489:4,616,839...4,887,179
Ensembl chrNW_004936489:4,614,754...4,887,171 		JBrowse link
G Syne1 spectrin repeat containing nuclear envelope protein 1 ISO ClinVar Annotator: match by term: EMERY-DREIFUSS MUSCULAR DYSTROPHY 4 WITH VARIABLE FEATURES | ClinVar Annotator: match by term: Emery-Dreifuss muscular dystrophy 4, autosomal dominant OMIM
ClinVar		 PMID:3169216 PMID:9536098 PMID:16199547 PMID:17159980 PMID:17503513 More... NCBI chrNW_004936489:4,903,176...5,177,987 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14511
    Developmental Disease 12617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11812
        genetic disease 11494
          monogenic disease 9655
            autosomal genetic disease 8942
              autosomal dominant disease 5892
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
Path 2
Term Annotations click to browse term
  disease 14511
    disease of anatomical entity 14163
      nervous system disease 12397
        peripheral nervous system disease 3899
          neuropathy 3715
            neuromuscular disease 2905
              muscular disease 2047
                muscle tissue disease 1229
                  myopathy 952
                    muscular dystrophy 575
                      Emery-Dreifuss muscular dystrophy 122
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
paths to the root