neuropathy, hereditary sensory and autonomic, type 2A
A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has material basis in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13
MONDO:0019941
hereditary sensory and autonomic neuropathy type 2
is_a
HSAN 2A
exact
HSAN2A
exact
HSN 2A
exact
Morvan disease
related
neuropathy, hereditary sensory and autonomic, type II
exact
neuropathy, hereditary sensory and autonomic, type IIA
exact
neuropathy, hereditary sensory, type 2A
exact