| 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 | |
| Synonyms |
hereditary sensory and autonomic neuropathy type IA [EXACT] HSAN1A [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |