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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;   dyserythropoietic anemia and thrombocytopenia;   dyserythropoietic anemia with thrombocytopenia
 related_synonym: GATA-1-RELATED THROMBOCYTOPENIA WITH DYSERYTHROPOIESIS
 primary_id: MESH:C564525;   MESH:C564526
 alt_id: OMIM:300367;   RDO:0008582;   RDO:0013462;   RDO:0013463
For additional species annotation, visit the Alliance of Genome Resources.

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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 ClinVar Annotator: match by OMIM:300367
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)
ClinVar Annotator: match by term: THROMBOCYTOPENIA, X-LINKED, WITH OR WITHOUT DYSERYTHROPOIETIC ANEMIA
ClinVar Annotator: match by term: GATA-1-related thrombocytopenia with dyserythropoiesis
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia		 ClinVar
OMIM		 PMID:8628290 PMID:10700180 PMID:11418466 PMID:11566888 PMID:11809723 PMID:15895080 PMID:15920471 PMID:16095949 PMID:16103636 PMID:16783379 PMID:17713552 PMID:17763153 PMID:18041654 PMID:22706301 PMID:23278136 PMID:23704091 PMID:24255919 PMID:24453067 PMID:24766296 PMID:24952648 PMID:25741868 PMID:28492532 PMID:31064749 PMID:32581362, PMID:10700180, PMID:11418466, PMID:11675338 RGD:10450740, RGD:10450743, RGD:10450749 NCBI chr  X:15,273,937...15,281,759
Ensembl chr  X:15,378,789...15,382,066 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital hemolytic anemia 137
        congenital dyserythropoietic anemia 9
          X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      Hemic and Lymphatic Diseases 2065
        hematopoietic system disease 1647
          anemia 399
            normocytic anemia 179
              hemolytic anemia 179
                congenital hemolytic anemia 137
                  congenital dyserythropoietic anemia 9
                    X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 1
paths to the root