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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:Muscle Rigidity
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Accession:DOID:9001480 term browser browse the term
Definition:Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)
Synonyms:exact_synonym: Catatonic Rigidity;   Cogwheel Rigidities;   Cogwheel Rigidity;   Extensor Rigidity;   Extrapyramidal Rigidity;   Gegenhalten;   Gegenhaltens;   Muscular Rigidity;   Nuchal Rigidity
 primary_id: MESH:D009127;   RDO:0000939
For additional species annotation, visit the Alliance of Genome Resources.


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Muscle Rigidity term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr 7:123,599,264...123,608,436
Ensembl chr 7:123,599,266...123,608,436
JBrowse link
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 PMID:2309702 PMID:2569551 PMID:3353383 PMID:7789963 PMID:8294487 PMID:8450045 PMID:8487270 PMID:8516282 PMID:9554746 PMID:10796875 PMID:12482401 PMID:14757438 PMID:15146461 PMID:16293621 PMID:17395504 PMID:17427031 PMID:18332251 PMID:18338393 PMID:18434642 PMID:18979180 PMID:18987351 PMID:19217815 PMID:19260119 PMID:19286695 PMID:19846850 PMID:20662857 PMID:20672374 PMID:20947659 PMID:20980259 PMID:21431620 PMID:21472771 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22451204 PMID:22592100 PMID:22968580 PMID:23676350 PMID:24022302 PMID:24033266 PMID:24756352 PMID:25249066 PMID:25456120 PMID:25653295 PMID:25741868 PMID:26096741 PMID:26868973 PMID:26905200 PMID:27872820 PMID:28492532 PMID:28779532 PMID:28923368 PMID:29527153 PMID:33223529 NCBI chr 2:188,511,781...188,522,602
Ensembl chr 2:188,516,582...188,522,601
JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17368676 NCBI chr15:23,935,011...23,968,971
Ensembl chr15:23,934,585...23,969,011
JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:10675796 NCBI chr 4:79,557,856...79,565,059
Ensembl chr 4:79,557,854...79,565,097
Ensembl chr 4:79,557,854...79,565,097
JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:8036282 NCBI chr 7:44,111,594...44,120,998
Ensembl chr 7:44,111,151...44,121,130
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:24,718,548...24,955,533
Ensembl chr 2:24,719,976...24,923,128
JBrowse link
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:25741868 NCBI chr 3:122,644,183...122,680,054
Ensembl chr 3:122,662,086...122,679,128
JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 8
ClinVar Annotator: match by OMIM:300607
OMIM
ClinVar
PMID:9536098 PMID:15215304 PMID:17576681 PMID:17893116 PMID:18414213 PMID:18615734 PMID:21633362 PMID:21731583 PMID:23033978 PMID:25678704 PMID:25741868 PMID:26467025 PMID:26834553 PMID:27238888 PMID:28492532 PMID:28589176 PMID:28708303 PMID:32860008 NCBI chr  X:64,249,576...64,428,444
Ensembl chr  X:64,248,278...64,428,592
JBrowse link
hyperekplexia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO
ISS
ClinVar Annotator: match by term: Hyperekplexia ClinVar
MouseDO
NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia hereditary ClinVar PMID:12684523 PMID:28492532 NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar PMID:16884688 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363
JBrowse link
hyperekplexia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO ClinVar Annotator: match by term: Hyperekplexia 1 OMIM
ClinVar
PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 PMID:7981700 PMID:8298642 PMID:8571969 PMID:8651283 PMID:8733061 PMID:9009272 PMID:9067762 PMID:9920650 PMID:10514101 PMID:10817489 PMID:11389164 PMID:11702206 PMID:11781706 PMID:11973623 PMID:12169101 PMID:15365143 PMID:15771552 PMID:16078201 PMID:16236274 PMID:16832093 PMID:17536053 PMID:18043720 PMID:19732286 PMID:20631190 PMID:22264702 PMID:24033266 PMID:24108130 PMID:25036534 PMID:25333069 PMID:25568133 PMID:25741868 PMID:26733802 PMID:27391121 PMID:27435318 PMID:28122427 PMID:28138086 PMID:28492532 PMID:28617419 PMID:28879899 PMID:28985719 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Gphn gephyrin ISS
ISO
OMIM:149400
ClinVar Annotator: match by term: Hyperekplexia 1
MouseDO
ClinVar
PMID:12684523 PMID:25741868 PMID:28492532 NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
JBrowse link
hyperekplexia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia 2
ClinVar Annotator: match by OMIM:614619
OMIM
ClinVar
PMID:9536098 PMID:11929858 PMID:17576681 PMID:21391991 PMID:23184146 PMID:28492532 NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547
JBrowse link
hyperekplexia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc6a5 solute carrier family 6 member 5 ISO ClinVar Annotator: match by term: Hyperekplexia 3
ClinVar Annotator: match by OMIM:614618
OMIM
ClinVar
PMID:14622583 PMID:16751771 PMID:16884688 PMID:22700964 PMID:22753417 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363
JBrowse link
hyperekplexia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atad1 ATPase family, AAA domain containing 1 ISO ClinVar Annotator: match by term: HYPEREKPLEXIA 4 ClinVar
OMIM
PMID:25741868 PMID:28180185 PMID:29390050 PMID:29659736 NCBI chr 1:251,234,702...251,386,996
Ensembl chr 1:251,235,508...251,387,002
JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia
CTD
ClinVar
PMID:9536098 PMID:9927632 PMID:11702206 PMID:17576681 PMID:18175347 PMID:20631190 PMID:24108130 PMID:25741868 PMID:27391121 PMID:27435318 PMID:28174298 PMID:28492532 PMID:30078784 PMID:30182260 NCBI chr10:40,851,955...40,954,364
Ensembl chr10:40,855,559...40,953,651
JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:179,768,040...179,842,612
Ensembl chr 2:179,769,009...179,842,547
JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:101,327,874...101,859,169
Ensembl chr 6:101,532,518...101,859,164
JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:44,810,462...44,897,677
Ensembl chr18:44,810,388...44,897,640
JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:105,270,418...105,336,369
Ensembl chr 1:105,284,753...105,336,363
JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:129,946,596...130,106,382
Ensembl chr 8:130,009,573...130,106,382
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        muscular disease 1191
          Muscle Rigidity 15
            Progressive Encephalomyelitis with Rigidity 0
            Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
            hyperekplexia + 8
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      nervous system disease 11864
        peripheral nervous system disease 2421
          neuropathy 2233
            neuromuscular disease 1780
              muscular disease 1191
                Muscle Rigidity 15
                  Progressive Encephalomyelitis with Rigidity 0
                  Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
                  hyperekplexia + 8
paths to the root