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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;   Fabry's disease;   GLA deficiency;   alpha galactosidase A deficiency;   alpha galactosidase A deficiency disease;   alpha galactosidase deficiency;   angiokeratoma corporis diffusum;   angiokeratoma diffuse;   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.


show annotations for term's descendants           Sort by:
Fabry disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace angiotensin I converting enzyme treatment ISO RGD PMID:20941593 RGD:12879402 NCBI chr11:105,858,774...105,880,790
Ensembl chr11:105,858,771...105,880,790 		JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr 8:125,283,326...125,296,445
Ensembl chr 8:125,283,273...125,296,445 		JBrowse link
G Ar androgen receptor treatment IMP RGD PMID:25701874 RGD:11576234 NCBI chr  X:97,192,363...97,366,824
Ensembl chr  X:97,192,375...97,366,821 		JBrowse link
G Btk Bruton agammaglobulinemia tyrosine kinase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:133,443,083...133,484,366
Ensembl chr  X:133,443,085...133,484,319 		JBrowse link
G Drp2 dystrophin related protein 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:133,304,868...133,357,323
Ensembl chr  X:133,305,300...133,357,322 		JBrowse link
G Gla galactosidase, alpha ISO
IAGP		 DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease
compared to wild type
CTD Direct Evidence: marker/mechanism
OMIM:301500		 ClinVar
OMIM
CTD
MouseDO
RGD		 PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More... RGD:1601350, RGD:401976416, RGD:150429980, RGD:401976419, RGD:401976418 NCBI chr  X:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		JBrowse link
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:7531540 PMID:11889412 PMID:15776423 PMID:17532296 PMID:17555407 More... NCBI chr  X:133,501,928...133,507,809
Ensembl chr  X:133,501,928...133,507,809 		JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 2:129,141,530...129,151,892
Ensembl chr 2:129,141,530...129,151,892 		JBrowse link
G Mylk2 myosin, light polypeptide kinase 2, skeletal muscle ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr 2:152,753,265...152,764,985
Ensembl chr 2:152,753,272...152,764,988 		JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:133,486,403...133,488,811
Ensembl chr  X:133,486,403...133,488,811 		JBrowse link
G Taf7l TATA-box binding protein associated factor 7 like ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:133,360,865...133,377,254
Ensembl chr  X:133,360,867...133,377,239 		JBrowse link
G Timm8a1 translocase of inner mitochondrial membrane 8A1 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:28492532 NCBI chr  X:133,438,005...133,442,419
Ensembl chr  X:133,438,005...133,442,614 		JBrowse link
G Vdr vitamin D (1,25-dihydroxyvitamin D3) receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr15:97,752,308...97,806,177
Ensembl chr15:97,752,306...97,808,511 		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 chr 5:3,739,999...3,853,124
Ensembl chr 5:3,740,000...3,852,925 		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 chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564 		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:105759 PMID:1315715 PMID:1846223 PMID:2171331 PMID:7596372 More... NCBI chr  X:133,488,912...133,501,707
Ensembl chr  X:133,488,898...133,501,874 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    Developmental Disease 17912
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17782
        genetic disease 17756
          monogenic disease 10362
            X-linked monogenic disease 1351
              Fabry disease 15
                Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            Metabolic Brain Diseases 1515
              Metabolic Brain Diseases, Inborn 1382
                Lysosomal Storage Diseases, Nervous System 177
                  sphingolipidosis 148
                    Fabry disease 15
                      Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                      Fabry Disease, Cardiac Variant 1
paths to the root