Disease association ontology term - MONDO:0013522 - dyskeratosis congenita, autosomal dominant 3
Term summary
- ID
- MONDO:0013522
- Name
- dyskeratosis congenita, autosomal dominant 3
- Ontology or CV name
- Disease association
- Definition
- A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TINF2 on chromosome 14q12.