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: Trismus
Accession: DOID:9006588
browse the term
Definition: Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions.
Synonyms: exact_synonym: Lock Jaw; Lockjaw; Masseter Muscle Spasm; Masseter Muscle Spasms; Masseter Spasm; Masseter Spasms
primary_id: MESH:D014313 ; RDO:0001195
For additional species annotation, visit the
Alliance of Genome Resources .
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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
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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
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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
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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
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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 PMID:20186812 PMID:20400119 PMID:21326283 PMID:21370513 PMID:24008591 PMID:24488861 PMID:25326637 PMID:25741868 PMID:26752647 PMID:31497877 More...
NCBI chr16:18,924,722...18,936,049
Ensembl chr16:18,924,722...18,935,997
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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
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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
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Klhl7
kelch-like family member 7
ISO
ClinVar Annotator: match by term: CRISPONI/COLD-INDUCED SWEATING SYNDROME 3 | ClinVar Annotator: match by term: PERCHING syndrome
OMIM ClinVar
PMID:18414213 PMID:25741868 PMID:27392078 PMID:28492532 PMID:29074562 PMID:30300710 PMID:30426380 PMID:30997404 More...
NCBI chr 4:11,006,366...11,055,399
Ensembl chr 4:11,006,375...11,055,541
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Fbn2
fibrillin 2
ISO
ClinVar Annotator: match by term: Beals-Hecht syndrome | ClinVar Annotator: match by term: Hecht syndrome
ClinVar
PMID:3495735 PMID:4750422 PMID:8653794 PMID:9536098 PMID:11754102 PMID:16677079 PMID:16835936 PMID:17345643 PMID:17576681 PMID:17935258 PMID:18414213 PMID:18767143 PMID:19006240 PMID:22325249 PMID:23148498 PMID:24033266 PMID:24833718 PMID:24899048 PMID:25326637 PMID:25525159 PMID:25741868 PMID:25944730 PMID:26038974 PMID:26133393 PMID:28166811 PMID:28492532 PMID:29926239 PMID:34008892 More...
NCBI chr18:51,499,737...51,703,976
Ensembl chr18:51,499,737...51,703,976
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Myh8
myosin heavy chain 8
ISO
ClinVar Annotator: match by term: Dutch-Kentucky syndrome | ClinVar Annotator: match by term: Hecht syndrome DNA:missense mmutation:cds:c.2021G > A(p.R674Q)(human)
OMIM ClinVar RGD
PMID:1600999 PMID:4443857 PMID:4837286 PMID:12800911 PMID:15282353 PMID:15590965 PMID:17041932 PMID:18049072 PMID:18414213 PMID:20949528 PMID:25305228 PMID:25741868 PMID:28492532 PMID:17041932 More...
RGD:12914760
NCBI chr10:51,963,510...51,993,103
Ensembl chr10:51,963,510...51,993,232
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