Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 45
go back to main search page
Accession:DOID:0110797 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: SPG45;   SPG65;   autosomal recessive spastic paraplegia 45;   autosomal recessive spastic paraplegia type 45;   autosomal recessive spastic paraplegia type 65
 primary_id: OMIM:613162
 alt_id: RDO:0009779
 xref: ORDO:320396
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
hereditary spastic paraplegia 45 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cnnm2 cyclin and CBS domain divalent metal cation transport mediator 2 JBrowse link 1 266,530,421 266,651,292 RGD:8554872
G Nt5c2 5'-nucleotidase, cytosolic II JBrowse link 1 266,652,966 266,782,935 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 45 2
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 45 2
paths to the root

NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.