ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 30
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Accession:DOID:0110781 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)
Synonyms:exact_synonym: SPG30;   autosomal recessive spastic paraplegia 30;   autosomal spastic paraplegia type 30
 primary_id: MESH:C563677
 alt_id: OMIM:610357;   RDO:0012874
 xref: ORDO:101010
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hereditary spastic paraplegia 30 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif1a kinesin family member 1A JBrowse link 9 100,171,851 100,253,626 RGD:7240710
RGD:8554872
RGD:12911224
RGD:12911228

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          paraplegia 134
            hereditary spastic paraplegia 120
              hereditary spastic paraplegia 30 1
Path 2
Term Annotations click to browse term
  disease 14823
    disease of anatomical entity 13997
      nervous system disease 9111
        central nervous system disease 6908
          neurodegenerative disease 2091
            Nervous System Heredodegenerative Disorders 1168
              motor peripheral neuropathy 413
                hereditary spastic paraplegia 120
                  hereditary spastic paraplegia 30 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.