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Human Disease

hereditary sensory neuropathy type 1D

Term ID
DOID:0070156
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. https://www.ncbi.nlm.nih.gov/pubmed/21194679
References
Ontology
Human Disease   ( DOID:0070156 )
Relationships
is a type of
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Genes Involved
Zebrafish Models