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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_004624785:6,164,507...6,601,302
Ensembl chrNW_004624785:6,164,379...6,601,326 		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_004624785:5,647,041...6,144,065 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14102
    Developmental Disease 12293
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11525
        genetic disease 11216
          monogenic disease 9421
            autosomal genetic disease 8754
              autosomal dominant disease 5777
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
Path 2
Term Annotations click to browse term
  disease 14102
    disease of anatomical entity 13770
      nervous system disease 12060
        peripheral nervous system disease 3822
          neuropathy 3641
            neuromuscular disease 2849
              muscular disease 1999
                muscle tissue disease 1195
                  myopathy 918
                    muscular dystrophy 547
                      Emery-Dreifuss muscular dystrophy 113
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
paths to the root