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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 53
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Accession:DOID:0110805 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. (DO)
Synonyms:exact_synonym: SPG53;   autosomal recessive spastic paraplegia 53;   autosomal recessive spastic paraplegia type 53
 primary_id: OMIM:614898
 alt_id: RDO:9001082
 xref: ORDO:319199
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 53 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vps37a VPS37A subunit of ESCRT-I JBrowse link 16 54,860,811 54,899,410 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 53 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 53 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.