X-Linked Thrombocytopenia with Beta-Thalassemia

Preferred Label : X-Linked Thrombocytopenia with Beta-Thalassemia;

NCIt synonyms : XLTT;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the GATA1 gene encoding erythroid transcription factor. It is characterized by thrombocytopenia, hemolytic anemia, and impairment of hemoglobin chain synthesis.;

Détails

Origin ID

C134941;

UMLS CUI

C1839161;

Currated CISMeF NLP mapping
- Beta-thalassemia-X-linked thrombocytopenia syndrome [ORDO Disease]
- Thrombocytopenia with beta-thalassemia, X-linked [OMIM Phenotype]
- X-linked thrombocytopenia with beta-thalassemia [DO Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH Supplementary Concept]
DO Cross reference
- X-linked thrombocytopenia with beta-thalassemia [DO Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Beta thalassemia X-linked thrombocytopenia syndrome (disorder) [SNOMED CT concept]
- Beta-thalassemia-X-linked thrombocytopenia syndrome [ORDO Disease]
- Thrombocytopenia with beta-thalassemia, X-linked [OMIM Phenotype]
- X-linked thrombocytopenia with beta-thalassemia [DO Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH Supplementary Concept]
- thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis [MeSH concept]
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]

Position du mot-clé dans l'(les) arborescence(s) :

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