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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
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Accession:DOID:14499 term browser browse the term
Definition:A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. (DO)
Synonyms:exact_synonym: Anderson-Fabry disease;   Angiokeratoma Corporis Diffusum;   Angiokeratoma Diffuse;   Fabry's Disease;   GLA deficiency;   alpha Galactosidase A Deficiency Disease;   alpha galactosidase A deficiency;   alpha galactosidase deficiency;   ceramide trihexosidase deficiency;   deficiency of melibiase;   hereditary dystopic lipidosis
 primary_id: MESH:D000795
 alt_id: OMIM:301500
 xref: GARD:6400;   ICD10CM:E75.21;   NCI:C84701
For additional species annotation, visit the Alliance of Genome Resources.


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Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chrNW_004936484:19,713,299...19,721,144 JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chrNW_004936635:485,903...647,820 JBrowse link
G Gla galactosidase alpha ISO OMIM NCBI chrNW_004936813:474,938...484,753 JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chrNW_004936813:484,872...489,822 JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chrNW_004936783:1,210,715...1,218,315 JBrowse link
G LOC101968921 angiotensin-converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chrNW_004936541:4,157,847...4,178,156 JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry's disease ClinVar NCBI chrNW_004936485:18,782,890...18,795,942 JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chrNW_004936512:5,741,836...5,800,999 JBrowse link
Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankib1 ankyrin repeat and IBR domain containing 1 ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:25741868 NCBI chrNW_004936803:1,393,918...1,423,086 JBrowse link
G Krit1 KRIT1 ankyrin repeat containing ISO ClinVar Annotator: match by term: Angiokeratoma corporis diffusum with arteriovenous fistulas ClinVar PMID:20419355 PMID:25525273 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936621:2,088,606...2,128,579 JBrowse link
Fabry Disease, Cardiac Variant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gla galactosidase alpha ISO ClinVar Annotator: match by term: Fabry disease, cardiac variant ClinVar PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 PMID:8738659 PMID:9395081 PMID:9883849 PMID:10208848 PMID:10838196 PMID:10916280 PMID:11322659 PMID:11688386 PMID:11828341 PMID:12428061 PMID:15702404 PMID:17532296 PMID:17555407 PMID:19621417 PMID:19823873 PMID:20031620 PMID:20505683 PMID:20821055 PMID:21598360 PMID:22241068 PMID:22437327 PMID:23109060 PMID:23378663 PMID:23935525 PMID:24033266 PMID:24386359 PMID:25382311 PMID:25611685 PMID:25741868 PMID:27356758 PMID:27554049 PMID:27560961 PMID:27595546 PMID:27931613 PMID:28082092 PMID:28377241 PMID:28430823 PMID:28492532 PMID:29215092 NCBI chrNW_004936813:474,938...484,753 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 12955
    Nutritional and Metabolic Diseases 4229
      disease of metabolism 4229
        lipid metabolism disorder 777
          lipid storage disease 461
            sphingolipidosis 49
              Fabry disease 10
                Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 12955
    disease of anatomical entity 12628
      nervous system disease 10533
        central nervous system disease 9221
          brain disease 8655
            Metabolic Brain Diseases 564
              Metabolic Brain Diseases, Inborn 501
                Lysosomal Storage Diseases, Nervous System 74
                  sphingolipidosis 49
                    Fabry disease 10
                      Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                      Fabry Disease, Cardiac Variant 1
paths to the root