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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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
For additional species annotation, visit the Alliance of Genome Resources.



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Troyer syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grid2 glutamate ionotropic receptor delta type subunit 2 ISO ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:92,415,019...93,892,472
Ensembl chr 4:92,415,230...93,889,355
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G Spart spartin ISO ClinVar Annotator: match by term: Troyer syndrome OMIM
ClinVar
PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chr 2:139,292,630...139,319,248
Ensembl chr 2:139,292,355...139,319,248
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          paraplegia 275
            hereditary spastic paraplegia 228
              Troyer syndrome 2
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        central nervous system disease 11323
          neurodegenerative disease 3902
            Nervous System Heredodegenerative Disorders 2394
              motor peripheral neuropathy 683
                hereditary spastic paraplegia 228
                  Troyer syndrome 2
paths to the root