Term Name: hereditary sensory and autonomic neuropathy type 2B
Synonyms: hereditary sensory and autonomic neuropathy type IIB, HSAN2B
Definition: A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15.
Ontology: Human Disease [DOID:0070150]   ( DOID:0070150 )

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