Human genes for hereditary sensory and autonomic neuropathy type 1A
Hereditary sensory and autonomic neuropathy type 1A [DOID:0070152]
A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22.
Synonyms: hereditary sensory and autonomic neuropathy type 1A, DOID:0070152, familial sensory and autonomic neuropathy type 1A, hereditary sensory and autonomic neuropathy type IA, HSAN1A ...