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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:Spasm
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Accession:DOID:9006743 term browser browse the term
Definition:An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE.
Synonyms:exact_synonym: Ciliary Body Spasm;   Ciliary Body Spasms;   Generalized Spasm;   Generalized Spasms;   Muscle Spasm;   Muscle Spasms;   Muscular Spasm;   Muscular Spasms;   Spasms
 primary_id: MESH:D013035;   RDO:0002252
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
Spasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp24a1 cytochrome P450, family 24, subfamily a, polypeptide 1 ISO ClinVar Annotator: match by term: Muscle spasm ClinVar PMID:3490596 PMID:21675912 PMID:22047571 PMID:23001465 PMID:23485543 More... NCBI chr 3:159,275,947...159,290,383
Ensembl chr 3:159,275,947...159,290,383
JBrowse link
G Dmd dystrophin ISO ClinVar Annotator: match by term: Muscle spasm ClinVar PMID:25741868 NCBI chr  X:47,272,324...49,504,219
Ensembl chr  X:47,272,331...49,504,207
JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: marker/mechanism CTD PMID:7192515 NCBI chr 3:47,113,914...47,122,929
Ensembl chr 3:47,113,914...47,122,929
JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:2444298 PMID:3567346 PMID:5784655 PMID:8680739 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490
JBrowse link
Behr syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Opa1 OPA1, mitochondrial dynamin like GTPase ISO ClinVar Annotator: match by term: OPTIC ATROPHY, INFANTILE HEREDITARY, WITH NEUROLOGIC ABNORMALITIES
ClinVar Annotator: match by term: Optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss
ClinVar
OMIM
PMID:9490303 PMID:9917792 PMID:11017079 PMID:11440988 PMID:11440989 More... NCBI chr11:71,108,100...71,185,170
Ensembl chr11:71,109,873...71,185,109
JBrowse link
cold-induced sweating syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
G Crlf1 cytokine receptor-like factor 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
cold-induced sweating syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Crlf1 cytokine receptor-like factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 OMIM
ClinVar
PMID:8723066 PMID:12509788 PMID:17436251 PMID:17436252 PMID:19012339 More... NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
JBrowse link
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 1 ClinVar PMID:25741868 PMID:27392078 NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
cold-induced sweating syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 2 OMIM
ClinVar
PMID:16782820 PMID:20400119 PMID:25741868 NCBI chr 1:201,507,763...201,517,607
Ensembl chr 1:201,507,859...201,517,605
JBrowse link
cold-induced sweating syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klhl7 kelch-like family member 7 ISO ClinVar Annotator: match by term: Cold-induced sweating syndrome 3
ClinVar Annotator: match by term: PERCHING syndrome
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3
ClinVar
OMIM
PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 More... NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
JBrowse link
distal arthrogryposis type 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbn2 fibrillin 2 ISO ClinVar Annotator: match by term: Beals-Hecht syndrome ClinVar PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 More... NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
JBrowse link
G Myh8 myosin heavy chain 8 ISO ClinVar Annotator: match by term: Hecht syndrome
DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
ClinVar Annotator: match by OMIM:158300
OMIM
ClinVar
RGD
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 More... RGD:12914760 NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
JBrowse link
Hemifacial Spasm term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il6 interleukin 6 ISO RGD PMID:30684712 RGD:14975126 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
Trismus term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:7378868 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    Pathological Conditions, Signs and Symptoms 10360
      Signs and Symptoms 6553
        Neurologic Manifestations 5497
          Neuromuscular Manifestations 451
            Spasm 12
              Behr syndrome 1
              Dwarfism, Familial, with Muscle Spasms 0
              Hemifacial Spasm + 1
              Satoyoshi Syndrome 0
              Trismus + 6
paths to the root