Term Name: | hereditary sensory neuropathy type 1D |
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Synonyms: | HSN1D |
Definition: | A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. |
Ontology: | Human Disease [DOID:0070156] ( DOID:0070156 ) |