dyskeratosis congenita, autosomal recessive 5
A dyskeratosis congenita that has material basis in an autosomal dominant mutation of RTEL1 on chromosome 20q13.33.
MONDO:0006025
autosomal recessive disease
is_a
MONDO:0800467
dyskeratosis congenita and related telomere biology disorder
is_a
DKCB5
exact
dyskeratosis congenita, autosomal recessive 5
exact
dyskeratosis congenita, autosomal recessive type 5
exact