Disease association ontology term - MONDO:0013519 - dyskeratosis congenita, autosomal recessive 2
Term summary
- ID
- MONDO:0013519
- Name
- dyskeratosis congenita, autosomal recessive 2
- Ontology or CV name
- Disease association
- Definition
- A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3.