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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:hereditary spastic paraplegia 11
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Accession:DOID:0110764 term browser browse the term
Definition:A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: Hsp-Tcc;   Nakamura-Osame syndrome;   SPG11;   SPG11-related hereditary spastic paraplegia with thin corpus callosum;   Spastic paraplegia, mental retardation and thin corpus callosum;   autosomal recessive spastic paraplegia 11;   autosomal recessive spastic paraplegia complicated with thin corpus callosum;   autosomal recessive spastic paraplegia type 11;   autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum;   spastic paraplegia type 11;   spastic paraplegia-intellectual disability-thin corpus callosum syndrome
 narrow_synonym: GAIT DISTURBANCE
 primary_id: MESH:C537483
 alt_id: MESH:C538335;   OMIM:604360
 xref: GARD:4919;   ORDO:2822
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
 
hereditary spastic paraplegia 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atxn2 ataxin 2 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr12:40,264,601...40,335,637
Ensembl chr12:40,266,662...40,332,612 		JBrowse link
G B2m beta-2 microglobulin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,087,287...114,093,311
Ensembl chr 3:114,087,287...114,093,309 		JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Hereditary spastic paraplegia 11 ClinVar PMID:25741868, PMID:28492532 NCBI chr 7:139,454,945...139,484,403
Ensembl chr 7:139,455,242...139,483,997 		JBrowse link
G Eif3j eukaryotic translation initiation factor 3, subunit J ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar NCBI chr 3:113,976,687...113,998,925
Ensembl chr 3:113,976,687...113,998,922 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868, PMID:30311386 NCBI chr13:89,524,204...89,530,070
Ensembl chr13:89,524,329...89,530,068 		JBrowse link
G Mt-atp6 mitochondrially encoded ATP synthase membrane subunit 6 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:19626676, PMID:22577227, PMID:30311386 NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599 		JBrowse link
G Patl2 PAT1 homolog 2 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,065,814...114,075,404
Ensembl chr 3:114,066,840...114,074,803 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:12369018, PMID:16575835, PMID:17559086, PMID:18640039, PMID:18752264, PMID:19299310, PMID:22323514, PMID:23757202, PMID:24304607, PMID:24491487, PMID:25741868, PMID:28492532, PMID:30311386, PMID:32860008 NCBI chr 3:11,253,424...11,271,873
Ensembl chr 3:11,254,026...11,271,872 		JBrowse link
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr10:94,505,026...94,557,803
Ensembl chr10:94,505,026...94,557,764 		JBrowse link
G Spast spastin ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:10699187, PMID:26671083, PMID:28492532, PMID:30311386 NCBI chr 6:22,230,067...22,282,166
Ensembl chr 6:22,230,928...22,281,886 		JBrowse link
G Spg11 SPG11 vesicle trafficking associated, spatacsin ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive
ClinVar Annotator: match by term: Gait disturbance
ClinVar Annotator: match by OMIM:604360		 OMIM
ClinVar		 PMID:2795747, PMID:16773502, PMID:17322883, PMID:17717710, PMID:18067136, PMID:18079167, PMID:18332254, PMID:18337587, PMID:18361476, PMID:18414213, PMID:18439221, PMID:18586399, PMID:18663179, PMID:18717728, PMID:18835492, PMID:19087158, PMID:19105190, PMID:19194956, PMID:19196735, PMID:19438933, PMID:19513778, PMID:19763152, PMID:20110243, PMID:20301389, PMID:20307669, PMID:20390432, PMID:20571989, PMID:21625935, PMID:22154821, PMID:22175763, PMID:22237444, PMID:22246010, PMID:22406018, PMID:22696581, PMID:23043354, PMID:23121729, PMID:23443022, PMID:23699708, PMID:23733235, PMID:23881933, PMID:24033266, PMID:24090761, PMID:24482476, PMID:24833714, PMID:25059394, PMID:25174650, PMID:25299611, PMID:25326635, PMID:25525159, PMID:25588603, PMID:25741868, PMID:26064709, PMID:26183056, PMID:26374131, PMID:26467025, PMID:26539891, PMID:26556829, PMID:26601740, PMID:26671123, PMID:26742954, PMID:27066562, PMID:27071356, PMID:27077743, PMID:27084228, PMID:27217339, PMID:27256065, PMID:27544499, PMID:27790088, PMID:27884173, PMID:27900367, PMID:27904835, PMID:27957547, PMID:28130640, PMID:28160950, PMID:28492532, PMID:28554332, PMID:28832565, PMID:29246610, PMID:29342275, PMID:29389947, PMID:29525178, PMID:29691679, PMID:29732542, PMID:30311386, PMID:30363882, PMID:30373780, PMID:32214227, PMID:32860008 NCBI chr 3:113,999,600...114,064,438
Ensembl chr 3:113,999,719...114,065,170 		JBrowse link
G Tbr1 T-box brain transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:25741868 NCBI chr 3:47,677,720...47,685,902
Ensembl chr 3:47,677,720...47,685,902 		JBrowse link
G Trim69 tripartite motif-containing 69 ISO ClinVar Annotator: match by term: Spastic paraplegia 11, autosomal recessive ClinVar PMID:28492532 NCBI chr 3:114,103,011...114,123,293
Ensembl chr 3:114,102,875...114,126,523 		JBrowse link
G Twist1 twist family bHLH transcription factor 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 6:53,401,241...53,403,235
Ensembl chr 6:53,401,109...53,403,214 		JBrowse link
G Wars1 tryptophanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:28369220, PMID:30311386 NCBI chr 6:132,771,026...132,802,262
Ensembl chr 6:132,771,021...132,802,210 		JBrowse link
G Washc5 WASH complex subunit 5 ISO ClinVar Annotator: match by term: Gait disturbance ClinVar PMID:30311386 NCBI chr 7:99,625,379...99,677,237
Ensembl chr 7:99,625,619...99,677,268 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      hereditary spastic paraplegia 11 18
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            disease of mental health 6016
              developmental disorder of mental health 3136
                specific developmental disorder 2310
                  intellectual disability 2131
                    hereditary spastic paraplegia 11 18
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.