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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 (alpha) 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 chr10:4,561,989...4,955,633
Ensembl chr10:4,561,593...4,955,614 		JBrowse link
G Syne1 spectrin repeat containing, nuclear envelope 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 chr10:4,970,192...5,501,013
Ensembl chr10:4,970,917...5,501,482 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    Developmental Disease 13809
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12823
        genetic disease 12470
          monogenic disease 10415
            autosomal genetic disease 9593
              autosomal dominant disease 6339
                autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
Path 2
Term Annotations click to browse term
  disease 16121
    disease of anatomical entity 15680
      nervous system disease 13560
        peripheral nervous system disease 4129
          neuropathy 3927
            neuromuscular disease 3084
              muscular disease 2173
                muscle tissue disease 1318
                  myopathy 1033
                    muscular dystrophy 602
                      Emery-Dreifuss muscular dystrophy 126
                        autosomal dominant Emery-Dreifuss muscular dystrophy 4 2
paths to the root