| Metadata | |
|---|---|
| ID | DOID:0111767 |
| Name | X-linked thrombocytopenia with beta-thalassemia |
| Definition | A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. https://www.ncbi.nlm.nih.gov/pubmed/22102271, https://www.ncbi.nlm.nih.gov/pubmed/18930124 |
| Xrefs |
SNOMEDCT_US_2023_03_01:718196002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
beta-thalassemia-X-linked thrombocytopenia syndrome [EXACT] GATA1-related X-linked cytopenia [EXACT] thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [EXACT] XLTT [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |