Hirschsprung disease, susceptibility to, 1
An inherited susceptibility or predisposition to developing Hirschsprung disease in which the cause of the disease is a mutation in the RET gene.
MONDO:0100179
Hirschsprung disease, susceptibility to
is_a
HSCR1
exact
Hirschsprung disease
broad
Hirschsprung disease caused by mutation in RET
exact
Hirschsprung disease, susceptibility to, 1
exact
Hirschsprung disease, susceptibility to, type 1
exact
RET Hirschsprung disease
exact
aganglionic megacolon
broad
megacolon, aganglionic
broad
susceptibility to Hirschsprung disease 1
exact