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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;   SPART-RELATED CONDITION;   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: MIM:275900
 xref: GARD:5372;   ORDO:101000


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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 		JBrowse link
G Spart spartin ISO
ISS		 ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome
CTD Direct Evidence: marker/mechanism
OMIM:275900		 OMIM
ClinVar
CTD
MouseDO		 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 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        central nervous system disease 12570
          paraplegia 692
            hereditary spastic paraplegia 453
              Troyer syndrome 2
Path 2
Term Annotations click to browse term
  disease 19087
    disease of anatomical entity 18376
      nervous system disease 14241
        central nervous system disease 12570
          neurodegenerative disease 5003
            Nervous System Heredodegenerative Disorders 3349
              motor peripheral neuropathy 1287
                hereditary spastic paraplegia 453
                  Troyer syndrome 2
paths to the root