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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 76
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Accession:DOID:0110821 term browser browse the term
Definition:An autosomal recessive neurologic disorder characterized by young-adult onset of slowly progressive spasticity of the lower limbs resulting in gait difficulties. (OMIM)
Synonyms:exact_synonym: SPG76;   autosomal recessive hereditary spastic paraplegia-76;   autosomal recessive spastic paraplegia 76;   spastic paraplegia-76;   spinocerebellar ataxia, CAPN1-related
 primary_id: OMIM:616907
 alt_id: OMIA:001820;   RDO:9000338
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hereditary spastic paraplegia 76 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Capn1 calpain 1 JBrowse link 1 221,346,081 221,370,965 RGD:8554872
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          paraplegia 132
            hereditary spastic paraplegia 118
              hereditary spastic paraplegia 76 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
              motor peripheral neuropathy 458
                hereditary spastic paraplegia 118
                  hereditary spastic paraplegia 76 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.