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Metadata
ID DOID:0070152
Name hereditary sensory and autonomic neuropathy type 1A
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.
https://www.ncbi.nlm.nih.gov/pubmed/11242114
Xrefs

OMIM:162400

Synonyms

hereditary sensory and autonomic neuropathy type IA [EXACT]

HSAN1A [EXACT]

Parent Relationships

is_a hereditary sensory and autonomic neuropathy type 1

is_a autosomal dominant disease

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