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ONTOLOGY REPORT - ANNOTATIONS


Term:Troyer syndrome
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Accession:DOID:0050886 term browser browse the term
Definition:A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (DO)
Synonyms:exact_synonym: Cross-McKusick syndrome;   SPG20;   autosomal recessive spastic paraplegia 20;   autosomal recessive spastic paraplegia Troyer type;   autosomal recessive spastic paraplegia type 20;   childhood-onset spastic paraparesis with distal muscle wasting;   hereditary spastic paraplegia 20;   spastic paraplegia 20;   spastic paraplegia type 20;   spastic paraplegia with distal muscle wasting
 primary_id: MESH:C536858
 alt_id: OMIM:275900;   RDO:0002571
 xref: GARD:5372;   ORDO:101000
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Troyer syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grid2 glutamate ionotropic receptor delta type subunit 2 JBrowse link 4 94,068,112 95,476,864 RGD:8554872
G Spart spartin JBrowse link 2 144,522,382 144,548,968 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          paraplegia 131
            hereditary spastic paraplegia 117
              Troyer syndrome 2
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 14934
      nervous system disease 10239
        central nervous system disease 8117
          neurodegenerative disease 2701
            Nervous System Heredodegenerative Disorders 1726
              motor peripheral neuropathy 457
                hereditary spastic paraplegia 117
                  Troyer syndrome 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.