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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


show annotations for term's descendants           Sort by:
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 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Gch1 GTP cyclohydrolase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17368676 NCBI chr15:20,404,267...20,437,727
Ensembl chr15:20,402,527...20,437,698 		JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: therapeutic CTD PMID:10675796 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:8036282 NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423 		JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209 		JBrowse link
developmental and epileptic encephalopathy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Arhgef9 Cdc42 guanine nucleotide exchange factor 9 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15215304 PMID:16199547 PMID:16616186 PMID:17576681 More... NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513 		JBrowse link
G Asb12 ankyrin repeat and SOCS box-containing 12 ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:60,328,325...60,478,031
Ensembl chr  X:60,328,328...60,415,619 		JBrowse link
G Zc4h2 zinc finger C4H2-type containing ISO ClinVar Annotator: match by term: Developmental and epileptic encephalopathy, 8 ClinVar PMID:28492532 NCBI chr  X:60,525,706...60,546,519
Ensembl chr  X:60,525,712...60,546,488 		JBrowse link
hyperekplexia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Kok disease ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISS
ISO		 ClinVar Annotator: match by term: Hyperekplexia MouseDO
ClinVar		 NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162 		JBrowse link
G Glrb glycine receptor, beta ISO ClinVar Annotator: match by term: Hyperekplexia ClinVar NCBI chr 2:166,134,616...166,207,498
Ensembl chr 2:166,134,626...166,207,489 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Kok disease ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		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 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010 		JBrowse link
hyperekplexia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISO
ISS		 ClinVar Annotator: match by term: GLRA1-related condition | ClinVar Annotator: match by term: Hyperekplexia 1
OMIM:149400		 OMIM
ClinVar
MouseDO		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7874121 PMID:7881416 More... NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162 		JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia 1 ClinVar PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		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
ISS		 OMIM:614619
ClinVar Annotator: match by term: Hyperekplexia 2		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chr 2:166,134,616...166,207,498
Ensembl chr 2:166,134,626...166,207,489 		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
ISS		 OMIM:614618
ClinVar Annotator: match by term: Hyperekplexia 3		 OMIM
MouseDO
ClinVar		 PMID:9536098 PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 More... NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010 		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 OMIM
ClinVar		 PMID:25741868 PMID:28180185 PMID:28492532 PMID:29390050 PMID:29659736 More... NCBI chr 1:230,544,227...230,610,524
Ensembl chr 1:230,544,047...230,596,548 		JBrowse link
Stiff-Person syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnb1 catenin beta 1 ISO ClinVar Annotator: match by term: Stiff-person syndrome, congenital ClinVar PMID:10192393 PMID:10391090 PMID:25157968 PMID:26619011 NCBI chr 8:120,640,008...120,667,110
Ensembl chr 8:120,639,995...120,667,111 		JBrowse link
G Glra1 glycine receptor, alpha 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Hereditary hyperekplexia		 CTD
ClinVar		 PMID:1334371 PMID:7518444 PMID:7611730 PMID:7881416 PMID:7981700 More... NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162 		JBrowse link
G Glrb glycine receptor, beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:166,134,616...166,207,498
Ensembl chr 2:166,134,626...166,207,489 		JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Stiff-person syndrome, congenital		 CTD
ClinVar		 PMID:12684523 PMID:25741868 PMID:28492532 PMID:29948376 NCBI chr 6:96,954,365...97,483,617
Ensembl chr 6:96,892,148...97,483,612 		JBrowse link
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO RGD PMID:12225901 RGD:10411898 NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Slc6a5 solute carrier family 6 member 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25480793 NCBI chr 1:99,645,389...99,697,016
Ensembl chr 1:99,645,389...99,697,010 		JBrowse link
G Trak1 trafficking kinesin protein 1 ISS OMIM:184850 MouseDO NCBI chr 8:120,984,445...121,139,357
Ensembl chr 8:120,984,431...121,139,367 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      musculoskeletal system disease 8271
        muscular disease 2141
          Muscle Rigidity 17
            Progressive Encephalomyelitis with Rigidity 0
            Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
            hyperekplexia + 12
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        peripheral nervous system disease 4107
          neuropathy 3892
            neuromuscular disease 3051
              muscular disease 2141
                Muscle Rigidity 17
                  Progressive Encephalomyelitis with Rigidity 0
                  Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
                  hyperekplexia + 12
paths to the root