Term Name: | hereditary sensory and autonomic neuropathy type 2B |
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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 ) |