Metadata | |
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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 | |
Synonyms |
HSN1D [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |