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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 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          paraplegia 131
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 72 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 72 1
paths to the root

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