Term Name: hereditary sensory and autonomic neuropathy type 2A
Synonyms: hereditary sensory and autonomic neuropathy type IIA, HSAN2A
Definition: 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.
Ontology: Human Disease [DOID:0070155]   ( DOID:0070155 )

Relationships
is a type of: autosomal recessive disease hereditary sensory and autonomic neuropathy type 2