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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 Thrombocytopenia, with or without Dyserythropoietic Anemia
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Accession:DOID:9003890 term browser browse the term
Synonyms:exact_synonym: Gata1-Related Cytopenia;   Gata1-Related X-Linked Cytopenia;   X-linked macrothrombocytopenia;   XLTDA
 narrow_synonym: GATA-1-RELATED THROMBOCYTOPENIA WITH DYSERYTHROPOIESIS;   THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA;   THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA;   dyserythropoietic anemia and thrombocytopenia;   dyserythropoietic anemia with thrombocytopenia
 primary_id: MESH:C564525;   MESH:C564526
 alt_id: OMIM:300367;   RDO:0008582;   RDO:0013462;   RDO:0013463


show annotations for term's descendants           Sort by:
X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata1 GATA binding protein 1 ISO DNA:missense mutation: :p.M205V, 613G>A (human)
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, with or without dyserythropoietic anemia | ClinVar Annotator: match by term: Thrombocytopenia, X-linked, without dyserythropoietic anemia		 OMIM
CTD
ClinVar
RGD		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... RGD:10450740, RGD:10450743, RGD:10450749 NCBI chr  X:14,529,706...14,537,530
Ensembl chr  X:14,529,702...14,537,530 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:30,547,424...30,571,613
Ensembl chr  X:30,547,536...30,570,125 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      congenital hemolytic anemia 348
        congenital dyserythropoietic anemia 24
          X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Hemic and Lymphatic Diseases 3850
        hematopoietic system disease 3340
          anemia 783
            normocytic anemia 676
              hemolytic anemia 418
                congenital hemolytic anemia 348
                  congenital dyserythropoietic anemia 24
                    X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
paths to the root