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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 5A
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Accession:DOID:0110810 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: SPG5A;   autosomal recessive spastic paraplegia 5A;   autosomal recessive spastic paraplegia type 5A
 primary_id: MESH:C536871;   MESH:C564811
 alt_id: OMIM:270800;   RDO:0002584;   RDO:0011961
 xref: GARD:4926;   ORDO:100986
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 5A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aldh18a1 aldehyde dehydrogenase 18 family, member A1 JBrowse link 1 259,641,673 259,674,521 RGD:8554872
G Cyp2u1 cytochrome P450, family 2, subfamily u, polypeptide 1 JBrowse link 2 236,414,131 236,431,650 RGD:8554872
G Cyp7b1 cytochrome P450 family 7 subfamily B member 1 JBrowse link 2 102,701,903 102,871,257 RGD:7240710
RGD:8554872
RGD:11554173
G Gba2 glucosylceramidase beta 2 JBrowse link 5 59,068,081 59,079,719 RGD:8554872
G LOC690000 similar to CG3740-PA JBrowse link 1 94,572,714 94,587,842 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 5A 5
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 5A 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.