Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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 dyserythropoietic anemia
go back to main search page
Accession:DOID:0112156 term browser browse the term
Definition:An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in GATA1 on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. (DO)
Synonyms:exact_synonym: X-linked anemia with or without neutropenia and/or platelet abnormalities;   X-linked anemia with/without neutropenia and/or platelet abnormalities;   X-linked dyserythropoietic anemia with abnormal platelets and neutropenia;   XLANP
 primary_id: OMIM:300835
 xref: ORDO:363727
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
X-linked dyserythropoietic anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO ClinVar Annotator: match by term: ANEMIA, X-LINKED, WITH OR WITHOUT NEUTROPENIA AND/OR PLATELET ABNORMALITIES OMIM
ClinVar
PMID:15895080 PMID:16783379 PMID:20301538 PMID:20729467 PMID:22706301 More... NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      hematopoietic system disease 1913
        anemia 431
          X-linked dyserythropoietic anemia 1
Path 2
Term Annotations click to browse term
  disease 17251
    disease of anatomical entity 16595
      Hemic and Lymphatic Diseases 2332
        hematopoietic system disease 1913
          leukocyte disease 516
            leukopenia 126
              agranulocytosis 63
                neutropenia 59
                  X-linked dyserythropoietic anemia 1
paths to the root