congenital insensitivity to pain-hypohidrosis syndrome
A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has material basis in homozygous mutation in the PRDM12 gene on chromosome 9q34.
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:1060232
congenital insensitivity to pain
is_a
HSAN8
exact
hereditary sensory and autonomic neuropathy type 8
exact
hereditary sensory and autonomic neuropathy type VIII
exact