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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 3A
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Accession:DOID:0110791 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. (DO)
Synonyms:exact_synonym: FSP1;   SPG3;   SPG3A;   Strumpell disease;   autosomal dominant familial spastic paraplegia 1;   autosomal dominant spastic paraplegia 3;   autosomal dominant spastic paraplegia type 3;   spastic paraplegia 3;   spastic paraplegia 3A;   spastic paraplegia type 3A
 primary_id: MESH:C536864
 alt_id: OMIM:182600;   RDO:0002577;   RDO:0015926
 xref: GARD:5041;   ORDO:100984
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hereditary spastic paraplegia 3A term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atl1 atlastin GTPase 1 JBrowse link 6 92,229,764 92,370,428 RGD:7240710
RGD:8554872
G Map4k5 mitogen-activated protein kinase kinase kinase kinase 5 JBrowse link 6 92,136,242 92,229,578 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 3A 2
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 3A 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.