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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


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      cardiovascular system disease 5519
        heart disease 3447
          Cardiomegaly 944
            Left Ventricular Hypertrophy 198
              Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      nervous system disease 14255
        central nervous system disease 12587
          brain disease 11812
            Metabolic Brain Diseases 1520
              Metabolic Brain Diseases, Inborn 1387
                Lysosomal Storage Diseases, Nervous System 185
                  sphingolipidosis 154
                    Fabry disease 20
                      Fabry Disease, Cardiac Variant 1
paths to the root