ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 54
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Accession:DOID:0110806 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. (DO)
Synonyms:exact_synonym: SPG54;   autosomal recessive spastic paraplegia 54;   autosomal recessive spastic paraplegia type 54
 primary_id: OMIM:615033
 alt_id: RDO:9001083
 xref: ORDO:320380
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hereditary spastic paraplegia 54 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ddhd2 DDHD domain containing 2 JBrowse link 16 71,090,096 71,120,713 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 54 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 54 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.