Macrothrombocytopenia, isolated, 1, autosomal dominant

Preferred Label : Macrothrombocytopenia, isolated, 1, autosomal dominant;

Symbol : MACTHC1;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the tubulin beta-1 gene (TUBB1, 612901.0001).;

Prefixed ID : #613112;

Details

Origin ID

613112;

UMLS CUI

C5676892;

Currated CISMeF NLP mapping
- autosomal dominant macrothrombocytopenia TUBB1-related [DO Concept]
- macrothrombocytopenia, autosomal dominant, Tubb1-Related [MeSH concept]
- macrothrombocytopenia, autosomal dominant, Tubb1-Related [MeSH Supplementary Concept]
DO Cross reference
- autosomal dominant macrothrombocytopenia TUBB1-related [DO Concept]
Genes related to phenotype
- Tubulin, beta-1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Macrothrombocytopenia [HPO term]
Not associated HPO term(s)
- Impaired platelet aggregation [HPO term]
ORDO concept(s)
- Autosomal dominant macrothrombocytopenia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- autosomal dominant macrothrombocytopenia TUBB1-related [DO Concept]
- macrothrombocytopenia, autosomal dominant, Tubb1-Related [MeSH Supplementary Concept]
- macrothrombocytopenia, autosomal dominant, Tubb1-Related [MeSH concept]
Validated automatic mappings to NTBT
- Autosomal dominant macrothrombocytopenia [ORDO Disease]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients