ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 39
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Accession:DOID:0110790 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: NTE-Related Motor Neuron Disorder;   NTEMND;   SPG39;   autosomal recessive spastic paraplegia 39;   autosomal recessive spastic paraplegia type 39;   spastic paraplegia due to NTE mutation;   spastic paraplegia due to neuropathy target esterase mutation
 primary_id: MESH:C567433
 alt_id: OMIM:612020;   RDO:0015501
 xref: GARD:4924;   ORDO:139480
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hereditary spastic paraplegia 39 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mcoln1 mucolipin 1 JBrowse link 12 2,054,629 2,068,682 RGD:8554872
G Pnpla6 patatin-like phospholipase domain containing 6 JBrowse link 12 2,068,749 2,098,139 RGD:7240710
RGD:8554872

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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 39 2
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 39 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.