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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 4C
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Accession:DOID:0110679 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS Id;   CMS1D;   CMS4C;   FIM1;   Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency;   congenital myasthenic syndrome 4C, associated with acetylcholine receptor deficiency;   congenital myasthenic syndrome type Id;   familial infantile myasthenia 1;   postsynaptic congenital myasthenic syndrome associated with acetylcholine receptor deficiency
 related_synonym: FIM1 (formerly);   familial infantile myasthenia 1 (formerly)
 primary_id: MESH:C536090
 alt_id: OMIM:608931
 xref: NCI:C174216
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myasthenic syndrome 4C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asl argininosuccinate lyase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:25741868 PMID:34008892 NCBI chr12:26,659,664...26,677,136
Ensembl chr12:26,659,565...26,679,662
JBrowse link
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:25741868 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:10562302 PMID:18414213 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr10:54,501,096...54,516,418
Ensembl chr10:54,501,093...54,516,345
JBrowse link
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: CMS1d | ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C OMIM
ClinVar
PMID:8755487 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 More... NCBI chr10:55,331,211...55,339,923
Ensembl chr10:55,331,212...55,335,530
JBrowse link
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C
CTD
ClinVar
PMID:25741868 NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: CMS1d | ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:8755487 PMID:9158150 PMID:9708546 PMID:10211467 PMID:11030414 More... NCBI chr10:55,332,067...55,333,199
Ensembl chr10:55,332,244...55,333,196
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:25741868 PMID:28492532 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 ClinVar Annotator: match by term: Congenital myasthenic syndrome 4C ClinVar PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 More... NCBI chr 3:77,014,699...77,024,373
Ensembl chr 3:76,983,471...77,024,373
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18110
    physical disorder 4091
      congenital myasthenic syndrome 134
        congenital myasthenic syndrome 4C 8
Path 2
Term Annotations click to browse term
  disease 18110
    disease of anatomical entity 17482
      nervous system disease 13149
        peripheral nervous system disease 2990
          neuropathy 2782
            neuromuscular disease 2200
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  congenital myasthenic syndrome 4C 8
paths to the root