X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia

Preferred Label : X-linked Thrombocytopenia, with or without Dyserythropoietic Anemia;

NCIt synonyms : XLTDA;

NCIt definition : 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.;

Details

Origin ID

C136653;

UMLS CUI

C3550789;

Currated CISMeF NLP mapping
- Thrombocytopenia with congenital dyserythropoietic anemia [ORDO Disease]
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [OMIM Phenotype]
- X-linked congenital dyserythropoietic anemia with thrombocytopenia (disorder) [SNOMED CT concept]
- dyserythropoietic anemia with thrombocytopenia [MeSH Supplementary Concept]
- dyserythropoietic anemia with thrombocytopenia [MeSH concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thrombocytopenia, X-linked, with or without dyserythropoietic anemia [OMIM Phenotype]
disease_has_normal_cell_origin
- Hematopoietic and Lymphoid Cell [NCIt concept]
disease_has_normal_tissue_origin
- Hematopoietic and Lymphoid Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Hematopoietic and Lymphatic System [NCIt concept]
disease_mapped_to_gene
- GATA1 Gene [NCIt concept]

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