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Ontology Browser
Term:
thrombocytopenia, X-linked, with or without dyserythropoietic anemia (EFO:MONDO:0010308)
Annotations: Rat: (0) Mouse: (0) Human: (0) Chinchilla: (0) Bonobo: (0) Dog: (0) Squirrel: (0) Pig: (0) Naked Mole-rat: (0) Green Monkey: (0)
Parent Terms Term With Siblings Child Terms
alpha granule disease +  
autoimmune thrombocytopenic purpura 
autosomal dominant macrothrombocytopenia +  
congenital amegakaryocytic thrombocytopenia +  
congenital thrombotic thrombocytopenic purpura 
isolated delta-storage pool disease 
macrothrombocytopenia, isolated +  
syndromic constitutional thrombocytopenia +  
thrombocytopenia 1 
thrombocytopenia 12 with or without myopathy 
thrombocytopenia 2 
thrombocytopenia 3 
thrombocytopenia 4  
thrombocytopenia 5 
thrombocytopenia 7 
thrombocytopenia, X-linked, with or without dyserythropoietic anemia +  
An X-linked condition caused by mutation(s) in the GATA1 gene, encoding erythroid transcription factor. It is characterized by thrombocytopenia, as well as abnormal platelet function and morphology. Dyserythropoietic anemia of variable severity may also be present.

Synonyms
Exact Synonyms: X-linked thrombocytopenia, with or without dyserythropoietic Anaemia ;   thrombocytopenia, X-linked, with or without dyserythropoietic anemia, X-linked recessive
Related Synonyms: XLTDA
Alternate IDs: MONDO:0010308
Xrefs: MEDGEN:763703 ;   MIM:300367 ;   NCI:C136653 ;   UMLS:C3550789
Definition Sources: NCIT:C136653

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