dyskeratosis congenita, autosomal dominant 2
A dyskeratosis congenita that has material basis in an autosomal dominant mutation of TERT on chromosome 5p15.33.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0015780
dyskeratosis congenita
is_a
DKCA2
exact
dyskeratosis congenita, autosomal dominant 2
exact
dyskeratosis congenita, autosomal dominant type 2
exact
SPBC29A3.14c