Disease association ontology term - MONDO:0007485 - dyskeratosis congenita, autosomal dominant 1
Term summary
- ID
- MONDO:0007485
- Name
- dyskeratosis congenita, autosomal dominant 1
- Ontology or CV name
- Disease association
- Definition
- A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERC on chromosome 3q26.2.