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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:facioscapulohumeral muscular dystrophy 4
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Accession:DOID:0060918 term browser browse the term
Definition:A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)
Synonyms:exact_synonym: FSHD4;   facioscapulohumeral muscular dystrophy 4, digenic;   facioscapulohumeral muscular dystrophy type 4
 primary_id: MIM:619478
 alt_id: DOID:9002013

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facioscapulohumeral muscular dystrophy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnmt3b DNA methyltransferase 3 beta ISO ClinVar Annotator: match by term: Facioscapulohumeral muscular dystrophy 4, digenic OMIM
ClinVar		 PMID:25741868 PMID:27153398 PMID:28492532 NCBI chrNW_004624842:6,450,972...6,505,929
Ensembl chrNW_004624842:6,450,852...6,475,785 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    Developmental Disease 12477
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11716
        genetic disease 11437
          polygenic disease 676
            digenic disease 676
              facioscapulohumeral muscular dystrophy 4 1
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        peripheral nervous system disease 3959
          neuropathy 3780
            neuromuscular disease 2978
              muscular disease 2065
                muscle tissue disease 1242
                  atrophic muscular disease 609
                    Brody myopathy 606
                      muscular dystrophy 591
                        facioscapulohumeral muscular dystrophy 19
                          facioscapulohumeral muscular dystrophy 4 1
paths to the root