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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory neuropathy type 1D
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Accession:DOID:0070156 term browser browse the term
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. (DO)
Synonyms:exact_synonym: HSN1D;   hereditary sensory neuropathy type ID
 primary_id: OMIM:613708
 alt_id: RDO:9000615
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hereditary sensory neuropathy type 1D term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        Nervous System Malformations 742
          hereditary sensory neuropathy 29
            hereditary sensory and autonomic neuropathy type 1 12
              hereditary sensory neuropathy type 1D 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              hereditary sensory neuropathy 29
                hereditary sensory and autonomic neuropathy type 1 12
                  hereditary sensory neuropathy type 1D 1
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