channelopathy-associated congenital insensitivity to pain, autosomal recessive
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:0002320
congenital nervous system disorder
is_a
MONDO:1060232
congenital insensitivity to pain
is_a
HSAN2D
exact
SCN9A-related congenital insensitivity to pain
exact
autosomal recessive hereditary sensory neuropathy type IID
exact
channelopathy-associated CIP
exact
congenital insensitivity to pain with anosmia and neuropathic arthropathy
exact
indifference to pain, congenital, autosomal recessive
exact