Metadata | |
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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 | |
Synonyms |
hereditary sensory and autonomic neuropathy type IA [EXACT] HSAN1A [EXACT] |
Parent Relationships |