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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:Fabry Disease, Cardiac Variant
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Accession:DOID:9000020 term browser browse the term
Definition:A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008
Synonyms:primary_id: MESH:C567062
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    Pathological Conditions, Signs and Symptoms 9888
      Anatomical Pathological Conditions 1591
        Hypertrophy 757
          Cardiomegaly 671
            Left Ventricular Hypertrophy 187
              Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        central nervous system disease 10202
          brain disease 9574
            Metabolic Brain Diseases 587
              Metabolic Brain Diseases, Inborn 517
                Lysosomal Storage Diseases, Nervous System 66
                  sphingolipidosis 50
                    Fabry disease 9
                      Fabry Disease, Cardiac Variant 1
paths to the root