macrothrombocytopenia, autosomal dominant, Tubb1-Related

Preferred Label : macrothrombocytopenia, autosomal dominant, Tubb1-Related;

Origin ID

C567747;

UMLS CUI

C2751259;

Currated CISMeF NLP mapping
- Macrothrombocytopenia, isolated, 1, autosomal dominant [OMIM Phenotype]
- autosomal dominant macrothrombocytopenia TUBB1-related [DO Concept]
MeSH term(s) associated for indexing
- blood platelets [MeSH Descriptor]
- thrombocytopenia [MeSH Descriptor]
Record concept(s)
- macrothrombocytopenia, autosomal dominant, Tubb1-Related [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Macrothrombocytopenia, isolated, 1, autosomal dominant [OMIM Phenotype]
- autosomal dominant macrothrombocytopenia TUBB1-related [DO Concept]