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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 chr 1:14,217,032...14,604,906
Ensembl chr 1:14,217,036...14,493,363 		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 chr 1:13,715,644...14,201,711 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15289
    Developmental Disease 13240
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12318
        genetic disease 11984
          monogenic disease 10033
            autosomal genetic disease 9260
              autosomal dominant disease 6129
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
Path 2
Term Annotations click to browse term
  disease 15289
    disease of anatomical entity 14926
      nervous system disease 13021
        peripheral nervous system disease 4008
          neuropathy 3815
            neuromuscular disease 2988
              muscular disease 2097
                muscle tissue disease 1270
                  myopathy 984
                    muscular dystrophy 590
                      Emery-Dreifuss muscular dystrophy 127
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
paths to the root