Term Name: | hereditary sensory and autonomic neuropathy type 1A |
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Synonyms: | hereditary sensory and autonomic neuropathy type IA, HSAN1A |
Definition: | 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. |
Ontology: | Human Disease [DOID:0070152] ( DOID:0070152 ) |