Disease association ontology term - MONDO:0009136 - dyskeratosis congenita, autosomal recessive 1
Term summary
- ID
- MONDO:0009136
- Name
- dyskeratosis congenita, autosomal recessive 1
- Ontology or CV name
- Disease association
- Definition
- A dyskeratosis congenita that has material basis in an autosomal recessive mutation of NOLA3 on chromosome 15q14.