ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 26
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Accession:DOID:0110777 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. (DO)
Synonyms:exact_synonym: GM2 synthase deficiency;   SPG26;   autosomal recessive spastic paraplegia 26;   autosomal recessive spastic paraplegia type 26
 primary_id: MESH:C536862
 alt_id: OMIM:609195;   RDO:0002575
 xref: GARD:9587;   ORDO:101006
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hereditary spastic paraplegia 26 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G B4galnt1 beta-1,4-N-acetyl-galactosaminyl transferase 1 JBrowse link 7 70,439,273 70,459,556 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          paraplegia 134
            hereditary spastic paraplegia 120
              hereditary spastic paraplegia 26 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          neurodegenerative disease 2092
            Nervous System Heredodegenerative Disorders 1168
              motor peripheral neuropathy 413
                hereditary spastic paraplegia 120
                  hereditary spastic paraplegia 26 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.