Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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
go back to main search page
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 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
ClinVar		 PMID:871527 PMID:3164080 PMID:10700180 PMID:11418466 PMID:11809723 More... NCBI chr  X:41,088,724...41,092,190
Ensembl chr  X:48,945,394...48,953,126 		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:8,413,483...8,447,340
Ensembl chr  X:15,772,064...15,804,913 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    physical disorder 4917
      congenital hemolytic anemia 337
        congenital dyserythropoietic anemia 23
          X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      Hemic and Lymphatic Diseases 3704
        hematopoietic system disease 3220
          anemia 753
            normocytic anemia 407
              hemolytic anemia 407
                congenital hemolytic anemia 337
                  congenital dyserythropoietic anemia 23
                    X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia 2
paths to the root