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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:Spinal Muscular Atrophy, Facioscapulohumeral Type
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Accession:DOID:9004930 term browser browse the term
Synonyms:exact_synonym: FSHSMA
 primary_id: MESH:C566674
 alt_id: OMIM:182970
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Spinal Muscular Atrophy, Facioscapulohumeral Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plekhg5 pleckstrin homology and RhoGEF domain containing G5 ISO ClinVar Annotator: match by term: Spinal muscular atrophy, facioscapulohumeral type ClinVar NCBI chr 5:169,244,778...169,288,310
Ensembl chr 5:169,244,778...169,288,309
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      musculoskeletal system disease 6400
        neuromuscular disease 1829
          motor neuron disease 398
            spinal muscular atrophy 127
              Spinal Muscular Atrophy, Facioscapulohumeral Type 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        peripheral nervous system disease 2516
          neuropathy 2316
            neuromuscular disease 1829
              motor neuron disease 398
                spinal muscular atrophy 127
                  Spinal Muscular Atrophy, Facioscapulohumeral Type 1
paths to the root