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GENE - TERM ANNOTATION REPORT

RGD ID: 737384
Species: Mus musculus
RGD Object: Gene
Symbol: Chrng
Name: cholinergic receptor, nicotinic, gamma polypeptide
Acc ID: DOID:0080110
Term: contractures, pterygia, and spondylocarpotarsal fusion syndrome
Definition: A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (DO)
Definition Source(s): http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/ "DO" "DO", https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome "DO" "DO", https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/25957469 "DO" "DO"
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Chrng ISOCHRNG (Homo sapiens)7240710OMIM  
Chrng ISOCHRNG (Homo sapiens)11554173CTDCTD Direct Evidence: marker/mechanismPMID:16826520 PMID:16826531
Chrng ISOCHRNG (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Pterygium universalePMID:16826520 PMID:16826531 PMID:22167768 PMID:24038971 PMID:24254455 PMID:25608830 PMID:25741868 PMID:25957469 PMID:26578207 PMID:26752647 PMID:27245440 PMID:28492532 PMID:30868735 PMID:31230720 PMID:33060286 PMID:34440395
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