Disease association ontology term - MONDO:0013521 - dyskeratosis congenita, autosomal dominant 2

Term summary

ID

MONDO:0013521

Name

dyskeratosis congenita, autosomal dominant 2

Ontology or CV name

Disease association

Definition

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.

Parents

• is_a autosomal dominant disease
• is_a dyskeratosis congenita

Annotation