Thrombocytopenia 2

Preferred Label : Thrombocytopenia 2;

NCIt synonyms : THC2;

NCIt definition : An autosomal dominant disorder caused by mutation(s) in the ANKRD26 gene, encoding ANKRD26 protein. Additionally, in one family, a mutation(s) has been identified in the MASTL gene, encoding serine/threonine-protein kinase greatwall. The condition is characterized by mild to moderate bruisability.;

Details

Origin ID

C129035;

UMLS CUI

C1861185;

Currated CISMeF NLP mapping
- Thrombocytopenia 2 [OMIM Phenotype]
- Thrombocytopenia chromosome breakage [MeSH concept]
- thrombocytopenia chromosome breakage [MeSH Supplementary Concept]
Has associated anatomic sites
- Hematopoietic and Lymphatic System [NCIt concept]
See also inter- (CISMeF)
- microtubule associated serine/threonine kinase like [ORDO Gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thrombocytopenia 2 [OMIM Phenotype]
- Thrombocytopenia chromosome breakage [MeSH concept]
- thrombocytopenia chromosome breakage [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_associated_disease
- Hematologic Neoplasm with Germline ANKRD26 Mutation [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
- 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
- ANKRD26 Gene [NCIt concept]

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