Thrombocytopenia 1

Preferred Label : Thrombocytopenia 1;

NCIt synonyms : XLT; THC1; X-Linked Thrombocytopenia;

NCIt related terms : XL-Thrombocytopenia;

NCIt definition : An X-linked recessive bleeding disorder caused by mutation(s) in the WAS gene, encoding Wiskott-Aldrich syndrome protein, resulting in thrombocytopenia.;

Details

Origin ID

C176617;

UMLS CUI

C1839163;

Currated CISMeF NLP mapping
- Thrombocytopenia 1 [OMIM Phenotype]
- thrombocytopenia 1 [MeSH Supplementary Concept]
- thrombocytopenia 1 [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 1 [OMIM Phenotype]
- thrombocytopenia 1 [MeSH Supplementary Concept]
- thrombocytopenia 1 [MeSH concept]
disease_has_finding
- Thrombocytopenia [NCIt 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
- WAS Gene [NCIt concept]
related_to_genetic_biomarker
- WAS Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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