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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:X-linked dyserythropoietic anemia
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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 the GATA1 gene 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: MIM:300835
 xref: ORDO:363727


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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:871527 PMID:12200364 PMID:14691578 PMID:15895080 PMID:16783379 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 19047
    disease of anatomical entity 18381
      hematopoietic system disease 3531
        anemia 858
          X-linked dyserythropoietic anemia 1
Path 2
Term Annotations click to browse term
  disease 19047
    disease of anatomical entity 18381
      Hemic and Lymphatic Diseases 4043
        hematopoietic system disease 3531
          leukocyte disease 1346
            leukopenia 566
              agranulocytosis 498
                neutropenia 494
                  X-linked dyserythropoietic anemia 1
paths to the root