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Metadata
ID DOID:0070156
Name hereditary sensory neuropathy type 1D
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.
https://www.ncbi.nlm.nih.gov/pubmed/21194679
Xrefs

OMIM:613708

Synonyms

HSN1D [EXACT]

Parent Relationships

is_a hereditary sensory and autonomic neuropathy type 1

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