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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: MIM: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 chr10:91,410,129...91,430,246
Ensembl chr10:90,910,316...90,931,131
JBrowse link
G Agt angiotensinogen severity ISO DNA:polymorphism:promoter: RGD PMID:24020479 RGD:13432161 NCBI chr19:69,426,540...69,447,017
Ensembl chr19:52,529,185...52,540,977
JBrowse link
G Ar androgen receptor treatment ISO RGD PMID:25701874 RGD:11576234 NCBI chr  X:67,135,317...67,304,476
Ensembl chr  X:63,104,771...63,273,925
JBrowse link
G Btk Bruton tyrosine kinase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:102,016,070...102,055,448
Ensembl chr  X:97,722,802...97,761,853
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:101,900,743...101,951,403
Ensembl chr  X:97,607,719...97,655,684
JBrowse link
G Galc galactosylceramidase ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:25741868 PMID:33547378 PMID:37597066 NCBI chr 6:123,182,636...123,252,024
Ensembl chr 6:117,452,895...117,515,830
JBrowse link
G Gla galactosidase, alpha ISO
ISS
IMP
DNA:point mutation:exon:R356W
ClinVar Annotator: match by term: Angiokeratoma corporis diffusum | ClinVar Annotator: match by term: Ceramide trihexosidase deficiency | ClinVar Annotator: match by term: Fabry disease | ClinVar Annotator: match by term: Fabry's disease
OMIM:301500
compared to wild type
CTD Direct Evidence: marker/mechanism
ClinVar
MouseDO
CTD
OMIM
RGD
PMID:105759 PMID:1315304 PMID:1315715 PMID:1650161 PMID:1668641 More... RGD:1601350, RGD:401976416, RGD:401976418, RGD:401976419, RGD:150429980 NCBI chr  X:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664
JBrowse link
G Glaem2Mcwi galactosidase, alpha; CRISPR/Cas9 system induced mutant 2, Medical College of Wisconsin IMP compared to wild type RGD PMID:29563343 PMID:29979634 PMID:34320241 PMID:34541380 RGD:150429980, RGD:401976416, RGD:401976418, RGD:401976419
G Hnrnph2 heterogeneous nuclear ribonucleoprotein H2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:7531540 PMID:10666480 PMID:11889412 PMID:12175777 PMID:15661032 More... NCBI chr  X:102,074,175...102,080,115
Ensembl chr  X:97,780,785...97,787,041
JBrowse link
G Il1a interleukin 1 alpha ISO DNA:SNP:promoter:-889C>T (human) RGD PMID:17353161 RGD:6907117 NCBI chr 3:136,979,804...136,990,236
Ensembl chr 3:116,526,604...116,536,822
JBrowse link
G Mylk2 myosin light chain kinase 2 ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:28492532 NCBI chr 3:161,836,705...161,848,609
Ensembl chr 3:141,376,691...141,387,728
JBrowse link
G Rpl36a ribosomal protein L36A ISO ClinVar Annotator: match by term: Fabry disease ClinVar PMID:10666480 PMID:12175777 PMID:15661032 PMID:16862044 PMID:19419768 More... NCBI chr  X:102,058,573...102,062,162
Ensembl chr  X:97,766,179...97,768,892
Ensembl chr20:97,766,179...97,768,892
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:101,953,508...101,968,336
Ensembl chr  X:97,660,222...97,675,023
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:102,011,206...102,015,444
Ensembl chr  X:97,717,920...97,721,960
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNPs,haplotype: : RGD PMID:18278558 RGD:13432071 NCBI chr 7:130,864,764...130,916,757
Ensembl chr 7:128,987,981...129,037,677
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 4:30,333,678...30,457,781
Ensembl chr 4:30,333,677...30,457,781
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 4:31,253,918...31,288,066
Ensembl chr 4:30,299,203...30,333,359
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:102,062,497...102,073,915
Ensembl chr  X:97,768,996...97,780,664
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19141
    Developmental Disease 14667
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13715
        genetic disease 13381
          monogenic disease 10935
            X-linked monogenic disease 1456
              Fabry disease 18
                Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                Fabry Disease, Cardiac Variant 1
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        central nervous system disease 12636
          brain disease 11855
            Metabolic Brain Diseases 1519
              Metabolic Brain Diseases, Inborn 1386
                Lysosomal Storage Diseases, Nervous System 185
                  sphingolipidosis 154
                    Fabry disease 18
                      Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas 2
                      Fabry Disease, Cardiac Variant 1
paths to the root