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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:congenital myasthenic syndrome 18
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Accession:DOID:0110683 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. (DO)
Synonyms:exact_synonym: CMS18
 narrow_synonym: congenital myasthenic syndrome 18 with intellectual disability and ataxia
 primary_id: OMIM:616330

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congenital myasthenic syndrome 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankef1 ankyrin repeat and EF-hand domain containing 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,967,234...19,988,725
Ensembl chrNW_004955415:19,967,234...19,993,481 		JBrowse link
G Hao1 hydroxyacid oxidase 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:17,981,791...18,035,151
Ensembl chrNW_004955415:17,981,791...18,035,224 		JBrowse link
G Jag1 jagged canonical Notch ligand 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:20,490,414...20,526,068
Ensembl chrNW_004955415:20,490,414...20,527,917 		JBrowse link
G Lamp5 lysosomal associated membrane protein family member 5 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,488,533...19,502,599
Ensembl chrNW_004955415:19,488,527...19,502,640 		JBrowse link
G Mkks MKKS centrosomal shuttling protein ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:20,292,311...20,315,850
Ensembl chrNW_004955415:20,292,663...20,300,797 		JBrowse link
G Pak5 p21 (RAC1) activated kinase 5 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,509,727...19,826,087
Ensembl chrNW_004955415:19,511,822...19,619,663 		JBrowse link
G Plcb1 phospholipase C beta 1 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:18,210,608...18,915,099
Ensembl chrNW_004955415:18,210,662...18,915,158 		JBrowse link
G Plcb4 phospholipase C beta 4 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:19,108,120...19,462,084
Ensembl chrNW_004955415:19,310,917...19,463,098 		JBrowse link
G Slx4ip SLX4 interacting protein ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:20,316,664...20,478,786
Ensembl chrNW_004955415:20,394,192...20,481,249 		JBrowse link
G Snap25 synaptosome associated protein 25 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 18 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25381298 PMID:25741868 PMID:26467025 More... NCBI chrNW_004955415:20,133,361...20,218,840
Ensembl chrNW_004955415:20,133,201...20,219,023 		JBrowse link
G Tmx4 thioredoxin related transmembrane protein 4 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 18, WITH INTELLECTUAL DISABILITY AND ATAXIA ClinVar PMID:28492532 PMID:32733715 NCBI chrNW_004955415:18,055,257...18,100,705
Ensembl chrNW_004955415:18,054,323...18,101,446 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14194
    physical disorder 4611
      congenital myasthenic syndrome 179
        congenital myasthenic syndrome 18 11
Path 2
Term Annotations click to browse term
  disease 14194
    disease of anatomical entity 13849
      nervous system disease 12113
        peripheral nervous system disease 3837
          neuropathy 3655
            neuromuscular disease 2855
              neuromuscular junction disease 203
                congenital myasthenic syndrome 179
                  congenital myasthenic syndrome 18 11
paths to the root