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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 chr16:50,925,783...50,946,661
Ensembl chr16:50,925,803...50,946,661 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        muscular disease 2148
          muscle tissue disease 1294
            myopathy 1008
              muscular dystrophy 600
                facioscapulohumeral muscular dystrophy 20
                  facioscapulohumeral muscular dystrophy 1 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        peripheral nervous system disease 4124
          neuropathy 3907
            neuromuscular disease 3059
              muscular disease 2148
                muscle tissue disease 1294
                  myopathy 1008
                    muscular dystrophy 600
                      facioscapulohumeral muscular dystrophy 20
                        facioscapulohumeral muscular dystrophy 1 1
paths to the root