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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 9
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Accession:DOID:0110670 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (DO)
Synonyms:exact_synonym: CMS9;   congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency
 primary_id: OMIM:616325
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myasthenic syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Musk muscle associated receptor tyrosine kinase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 9 OMIM
ClinVar
PMID:15184594 PMID:15496425 PMID:18414213 PMID:19949040 PMID:20371544 More... NCBI chr 5:73,058,427...73,169,696
Ensembl chr 5:73,058,121...73,171,932
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18145
    physical disorder 4121
      congenital myasthenic syndrome 133
        congenital myasthenic syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 18145
    disease of anatomical entity 17519
      nervous system disease 13182
        peripheral nervous system disease 2997
          neuropathy 2785
            neuromuscular disease 2204
              neuromuscular junction disease 162
                congenital myasthenic syndrome 133
                  congenital myasthenic syndrome 9 1
paths to the root