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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 IAGP
EXP		 DNA:missense mutation: :p.M205V, 613G>A (human)
ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia
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
CTD Direct Evidence: marker/mechanism
DNA:missense mutation: :p.D218G, 653A>G (human)
DNA:missense mutation: :p.G208S, [622G>T;623G>C] (human)		 ClinVar
CTD
OMIM
RGD		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... RGD:10450740, RGD:10450743, RGD:10450749 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G LOC119407405 CRISPRi-FlowFISH-validated PLP2 regulatory element 6 IAGP ClinVar Annotator: match by term: GATA1-Related X-Linked Cytopenia ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:48,793,298...48,793,798 JBrowse link
G ZRSR2 zinc finger CCCH-type, RNA binding motif and serine/arginine rich 2 IAGP DNA:missense mutation:multiple (human) RGD PMID:28942350 RGD:151232291 NCBI chr  X:15,790,484...15,823,260
Ensembl chr  X:15,790,156...15,830,694 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 41189
    physical disorder 7135
      congenital hemolytic anemia 633
        congenital dyserythropoietic anemia 39
          X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 3
Path 2
Term Annotations click to browse term
  disease 41189
    disease of anatomical entity 32344
      Hemic and Lymphatic Diseases 5702
        hematopoietic system disease 4987
          anemia 1303
            normocytic anemia 722
              hemolytic anemia 722
                congenital hemolytic anemia 633
                  congenital dyserythropoietic anemia 39
                    X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 3
paths to the root