channelopathy-associated congenital insensitivity to pain, autosomal recessive
CIP
related
HSAN2D
related
channelopathy-associated CIP
exact
indifference to pain, congenital, autosomal recessive
related
insensitivity to pain, congenital
exact
A syndrome characterized by indifference to pain despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and intellectual disability may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)
MONDO:0002254
syndromic disease
is_a
MONDO:0003847
hereditary disease
is_a