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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 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
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 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
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
G Tgm6 transglutaminase 6 ISO ClinVar Annotator: match by term: Muscle rigidity ClinVar PMID:25741868 NCBI chr 3:117,324,268...117,355,674
Ensembl chr 3:117,321,489...117,354,734
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:16199547 PMID:17576681 PMID:17893116 More... NCBI chr  X:59,919,560...60,077,538
Ensembl chr  X:59,920,870...60,077,513
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 chr10:39,625,853...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 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
JBrowse link
G Gphn gephyrin ISO ClinVar Annotator: match by term: Hyperekplexia hereditary ClinVar PMID:12684523 PMID:28492532 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 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 More... NCBI chr10:39,625,853...39,727,897
Ensembl chr10:39,629,459...39,727,162
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 6:96,954,365...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 ClinVar Annotator: match by term: Hyperekplexia 2
ClinVar Annotator: match by OMIM:614619
OMIM
ClinVar
PMID:9536098 PMID:11929858 PMID:16199547 PMID:17576681 PMID:21391991 More... NCBI chr 2:166,134,624...166,207,509
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 ClinVar Annotator: match by term: Hyperekplexia 3
ClinVar Annotator: match by OMIM:614618
OMIM
ClinVar
PMID:14622583 PMID:16199547 PMID:16751771 PMID:16884688 PMID:22700964 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 ClinVar
OMIM
PMID:25741868 PMID:28180185 PMID:29390050 PMID:29659736 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 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 2:166,134,624...166,207,509
Ensembl chr 2:166,134,626...166,207,489
JBrowse link
G Gphn gephyrin ISO CTD Direct Evidence: marker/mechanism CTD 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 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        muscular disease 1283
          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 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        peripheral nervous system disease 2565
          neuropathy 2360
            neuromuscular disease 1879
              muscular disease 1283
                Muscle Rigidity 15
                  Progressive Encephalomyelitis with Rigidity 0
                  Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy 0
                  hyperekplexia + 8
paths to the root