Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:X-linked sideroblastic anemia with ataxia
go back to main search page
Accession:DOID:0050554 term browser browse the term
Definition:A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)
Synonyms:exact_synonym: ASAT;   Anemia, sideroblastic, spinocerebellar ataxia;   Pagon Bird Detter syndrome;   X-linked sideroblastic anaemia and ataxia;   X-linked sideroblastic anaemia with ataxia;   X-linked sideroblastic anemia and ataxia;   XLSA-A;   sex-linked hypochromic sideroblastic anemia;   sideroblastic anemia and ataxia;   sideroblastic anemia and spinocerebellar ataxia;   sideroblastic anemia with spinocerebellar ataxia
 primary_id: MESH:C536358
 alt_id: DOID:0060064;   OMIM:301310


show annotations for term's descendants           Sort by:
X-linked sideroblastic anemia with ataxia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb7 ATP-binding cassette, sub-family B member 7 susceptibility ISO DNA:missense mutation: :p.I400M (human)
DNA:missense mutation:exon:p.E433K (1305G>A) (human)
DNA:missense mutation:exon:p.V411L (1299G>C) (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia | ClinVar Annotator: match by term: X-linked sideroblastic anemia with ataxia		 OMIM
CTD
ClinVar
RGD		 PMID:4045952 PMID:9536098 PMID:10196363 PMID:11050011 PMID:11843825 More... RGD:1598600, RGD:11038734, RGD:11038735 NCBI chr  X:103,324,171...103,457,452
Ensembl chr  X:103,324,263...103,457,462 		JBrowse link
G Alas2 aminolevulinic acid synthase 2, erythroid ISO ClinVar Annotator: match by term: Sideroblastic Anemia and Ataxia ClinVar NCBI chr  X:149,330,443...149,353,614
Ensembl chr  X:149,330,371...149,353,634 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16106
    syndrome 10387
      myelodysplastic syndrome 244
        Refractory Anemia 32
          sideroblastic anemia 21
            X-linked sideroblastic anemia with ataxia 2
Path 2
Term Annotations click to browse term
  disease 16106
    disease of anatomical entity 15662
      Hemic and Lymphatic Diseases 3778
        hematopoietic system disease 3275
          Hematologic Neoplasms 1020
            hematologic cancer 1020
              bone marrow cancer 496
                myelodysplastic syndrome 244
                  Refractory Anemia 32
                    sideroblastic anemia 21
                      X-linked sideroblastic anemia with ataxia 2
paths to the root