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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 56
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Accession:DOID:0110808 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. (DO)
Synonyms:exact_synonym: SPG56;   autosomal recessive spastic paraplegia 56;   autosomal recessive spastic paraplegia type 56
 primary_id: OMIM:615030
 alt_id: RDO:9001085
 xref: ORDO:320411
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hereditary spastic paraplegia 56 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 JBrowse link 2 236,414,131 236,431,650 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
        central nervous system disease 8092
          paraplegia 131
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 56 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
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 56 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.