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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory neuropathy type 1F
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Accession:DOID:0070154 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: HSN 1F;   HSN1F;   hereditary sensory neuropathy type IF
 primary_id: OMIM:615632
 alt_id: RDO:9001020
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hereditary sensory neuropathy type 1F term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl3 atlastin GTPase 3 JBrowse link 1 222,746,023 222,788,439 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 1F 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 1F 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.