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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 1
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Accession:DOID:0111192 term browser browse the term
Definition:A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (DO)
Synonyms:exact_synonym: FSHD1;   FSHD1A;   FSHMD1A;   Facioscapulohumeral Muscular Dystrophy 1A;   Facioscapulohumeral muscular dystrophy, infantile;   facioscapulohumeral muscular dystrophy, type 1;   facioscapulohumeral muscular dystrophy, type 1a
 narrow_synonym: FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES
 primary_id: MESH:C536391
 alt_id: OMIM:158900
 xref: NCI:C172704

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facioscapulohumeral muscular dystrophy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Frg1 FSHD region gene 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624769:21,068,817...21,088,723
Ensembl chrNW_004624769:21,068,814...21,088,728 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14090
    disease of anatomical entity 13755
      musculoskeletal system disease 7235
        muscular disease 1999
          muscle tissue disease 1195
            myopathy 918
              muscular dystrophy 547
                facioscapulohumeral muscular dystrophy 17
                  facioscapulohumeral muscular dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 14090
    disease of anatomical entity 13755
      nervous system disease 12032
        peripheral nervous system disease 3822
          neuropathy 3641
            neuromuscular disease 2849
              muscular disease 1999
                muscle tissue disease 1195
                  myopathy 918
                    muscular dystrophy 547
                      facioscapulohumeral muscular dystrophy 17
                        facioscapulohumeral muscular dystrophy 1 1
paths to the root