congenital insensitivity to pain syndrome, Marsili type
MARSILI syndrome
exact
MARSIS
exact
Marsili syndrome
exact
congenital analgesia, autosomal dominant
exact
indifference to pain, congenital, autosomal dominant
exact
insensitivity to pain, congenital, autosomal dominant
exact
A pain insensitivity disorder in which the cause of the disease is a mutation in ZFHX2 gene. It is characterized by a lowered ability to sense pain, to experience temperature, and to sweat.
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a