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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary sensory and autonomic neuropathy type 2B
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Accession:DOID:0070150 term browser browse the term
Definition:A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. (DO)
Synonyms:exact_synonym: HSAN2B;   hereditary sensory and autonomic neuropathy, type IIB
 primary_id: OMIM:613115
 alt_id: MESH:C567738;   OMIA:002032;   RDO:0015725
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hereditary sensory and autonomic neuropathy type 2B term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Retreg1 reticulophagy regulator 1 JBrowse link 2 78,391,921 78,401,569 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        Nervous System Malformations 741
          hereditary sensory neuropathy 29
            hereditary sensory and autonomic neuropathy type 2 7
              hereditary sensory and autonomic neuropathy type 2B 1
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              hereditary sensory neuropathy 29
                hereditary sensory and autonomic neuropathy type 2 7
                  hereditary sensory and autonomic neuropathy type 2B 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.