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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 synonym: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:94,068,112...95,476,864
Ensembl chr 4:94,696,965...95,442,778
JBrowse link
G Spart spartin ISO ClinVar Annotator: match by OMIM:275900
ClinVar Annotator: match by term: Troyer syndrome
OMIM
ClinVar
PMID:6022528, PMID:12134148, PMID:15372254, PMID:18413476, PMID:18997780, PMID:19307600, PMID:20437587, PMID:20719964, PMID:23699601, PMID:24523286, PMID:25558065, PMID:25741868, PMID:26003402, PMID:26467025, PMID:27112432, PMID:28492532 NCBI chr 2:144,522,382...144,548,968
Ensembl chr 2:144,522,072...144,548,917
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          paraplegia 163
            hereditary spastic paraplegia 146
              Troyer syndrome 2
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        central nervous system disease 9045
          neurodegenerative disease 3201
            Nervous System Heredodegenerative Disorders 1954
              motor peripheral neuropathy 535
                hereditary spastic paraplegia 146
                  Troyer syndrome 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.