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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 11
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Accession:DOID:0110764 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: Autosomal Recessive Spastic Paraplegia Complicated with Thin Corpus Callosum;   Autosomal Recessive Spastic Paraplegia with Mental Impairment and Thin Corpus Callosum;   Hsp-Tcc;   Nakamura-Osame syndrome;   SPG11;   Spastic Paraplegia Type 11;   Spg11-Related Hereditary Spastic Paraplegia with Thin Corpus Callosum;   autosomal recessive spastic paraplegia 11;   autosomal recessive spastic paraplegia type 11;   spastic paraplegia-intellectual disability-thin corpus callosum syndrome
 narrow_synonym: GAIT DISTURBANCE
 primary_id: MESH:C537483
 alt_id: OMIM:604360;   RDO:0003329;   RDO:0015925
 xref: GARD:4919;   ORDO:2822
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hereditary spastic paraplegia 11 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Aars alanyl-tRNA synthetase JBrowse link 19 43,193,264 43,215,281 RGD:8554872
G Chat choline O-acetyltransferase JBrowse link 16 8,576,858 8,686,131 RGD:8554872
G Gch1 GTP cyclohydrolase 1 JBrowse link 15 23,935,011 23,968,971 RGD:8554872
G Pkp2 plakophilin 2 JBrowse link 11 88,912,163 88,972,213 RGD:8554872
G Spg11 SPG11 vesicle trafficking associated, spatacsin JBrowse link 3 113,999,600 114,064,438 RGD:7240710
RGD:8554872
G Tbr1 T-box brain transcription factor 1 JBrowse link 3 47,677,720 47,685,902 RGD:8554872
G Ttn titin JBrowse link 3 63,565,160 63,837,815 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          paraplegia 131
            hereditary spastic paraplegia 117
              hereditary spastic paraplegia 11 7
Path 2
Term Annotations click to browse term
  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        central nervous system disease 8092
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1718
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  hereditary spastic paraplegia 11 7
paths to the root

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