Disease association ontology term - MONDO:0014690 - dyskeratosis congenita, autosomal dominant 6

Term summary

ID

MONDO:0014690

Name

dyskeratosis congenita, autosomal dominant 6

Ontology or CV name

Disease association

Definition

A dyskeratosis congenita that has material basis in an autosomal dominant mutation of ACD on chromosome 16q22.1.

Parents

• is_a autosomal dominant disease
• is_a hematologic disorder
• is_a dyskeratosis congenita
• is_a ACD-related short telomere syndrome

Annotation