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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: OMIM:275900
 xref: GARD:5372;   ORDO:101000


show annotations for term's descendants           Sort by:
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 IAGP ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:92,303,966...93,810,456
Ensembl chr 4:92,303,966...93,810,157 		JBrowse link
G LNCPRESS2 lncRNA p53 regulated and ESC associated 2 IAGP ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:92,262,498...92,277,302
Ensembl chr 4:92,268,767...92,277,075 		JBrowse link
G LOC123477787 Sharpr-MPRA regulatory region 6143 IAGP ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:92,305,498...92,305,792 JBrowse link
G LOC126807111 MED14-independent group 3 enhancer GRCh37_chr4:93104511-93105710 IAGP ClinVar Annotator: match by term: Troyer syndrome ClinVar PMID:24122788 NCBI chr 4:92,183,360...92,184,559 JBrowse link
G LOC130009569 ATAC-STARR-seq lymphoblastoid silent region 5263 IAGP ClinVar Annotator: match by term: Troyer syndrome ClinVar NCBI chr13:36,346,243...36,346,292 JBrowse link
G SPART spartin IAGP
ISS
EXP		 ClinVar Annotator: match by term: SPART-related condition | ClinVar Annotator: match by term: Troyer syndrome
OMIM:275900
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12134148 PMID:18413476 PMID:20437587 PMID:20504295 PMID:23699601 More... NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180 		JBrowse link
G SPART-AS1 SPART antisense RNA 1 IAGP ClinVar Annotator: match by term: Troyer syndrome ClinVar NCBI chr13:36,346,431...36,369,735
Ensembl chr13:36,346,431...36,369,601 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          paraplegia 717
            hereditary spastic paraplegia 567
              Troyer syndrome 7
Path 2
Term Annotations click to browse term
  disease 35754
    disease of anatomical entity 32493
      nervous system disease 26373
        central nervous system disease 23608
          neurodegenerative disease 6578
            Nervous System Heredodegenerative Disorders 4556
              motor peripheral neuropathy 1565
                hereditary spastic paraplegia 567
                  Troyer syndrome 7
paths to the root