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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, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
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Accession:DOID:9008585 term browser browse the term
Synonyms:primary_id: MESH:C563829;   RDO:0012988
For additional species annotation, visit the Alliance of Genome Resources.



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Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:87,862,417...87,870,833
Ensembl chr 9:87,862,407...87,870,833
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
congenital myasthenic syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 11 OMIM
ClinVar
PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link
congenital myasthenic syndrome 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 2C OMIM
ClinVar
PMID:10562302 PMID:25741868 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital myasthenic syndrome 134
        Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
          congenital myasthenic syndrome 11 1
          congenital myasthenic syndrome 2C 1
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
                    congenital myasthenic syndrome 11 1
                    congenital myasthenic syndrome 2C 1
paths to the root