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ONTOLOGY REPORT - ANNOTATIONS


Term:hereditary spastic paraplegia 49
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Accession:DOID:0110801 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. (DO)
Synonyms:exact_synonym: SPG49;   autosomal recessive spastic paraplegia 49;   autosomal recessive spastic paraplegia type 49
 primary_id: OMIM:615031
 alt_id: OMIA:001975;   RDO:0015784
 xref: ORDO:320385
For additional species annotation, visit the Alliance of Genome Resources.


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hereditary spastic paraplegia 49 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ankrd9 ankyrin repeat domain 9 JBrowse link 6 135,409,698 135,412,552 RGD:8554872
G Tecpr2 tectonin beta-propeller repeat containing 2 JBrowse link 6 135,304,536 135,405,865 RGD:7240710
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 49 2
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 49 2
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.