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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 72
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Accession:DOID:0110817 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP2 gene on chromosome 5q31. (DO)
Synonyms:exact_synonym: SPG72;   autosomal spastic paraplegia type 72;   spastic paraplegia 72, autosomal dominant;   spastic paraplegia 72, autosomal recessive
 narrow_synonym: autosomal dominant spastic paraplegia type 72;   autosomal recessive spastic paraplegia type 72
 primary_id: OMIM:615625
 alt_id: RDO:9001017;   RDO:9001095
 xref: ORDO:401849
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hereditary spastic paraplegia 72 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Reep2 receptor accessory protein 2 JBrowse link 18 27,632,562 27,641,594 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          paraplegia 130
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 72 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1719
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 72 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.