ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 6
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Accession:DOID:0110811 term browser browse the term
Definition:A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)
Synonyms:exact_synonym: FSP3;   SPG6;   autosomal dominant familial spastic paraplegia type 3;   autosomal dominant spastic paraplegia 6;   autosomal dominant spastic paraplegia type 6;   familial spastic paraplegia, autosomal dominant 3
 primary_id: MESH:C536866
 alt_id: OMIM:600363;   RDO:0002579
 xref: ORDO:100988
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hereditary spastic paraplegia 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cyfip1 cytoplasmic FMR1 interacting protein 1 JBrowse link 1 114,258,773 114,347,138 RGD:8554872
G Nipa1 NIPA magnesium transporter 1 JBrowse link 1 114,385,484 114,422,741 RGD:7240710
RGD:8554872
G Nipa2 NIPA magnesium transporter 2 JBrowse link 1 114,346,005 114,371,907 RGD:8554872
G Tubgcp5 tubulin, gamma complex associated protein 5 JBrowse link 1 114,186,853 114,222,516 RGD:8554872

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 6 4
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 6 4
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.