Disease association ontology term - MONDO:0027353 - autosomal recessive dyskeratosis congenita 4
Term summary
- ID
- MONDO:0027353
- Name
- autosomal recessive dyskeratosis congenita 4
- Ontology or CV name
- Disease association
- Definition
- A dyskeratosis congenita that has material basis in an autosomal recessive mutation of TERT on chromosome 5p15.33.