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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: Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:15184594 PMID:15496425 PMID:18414213 PMID:19949040 PMID:20371544 PMID:23326516 PMID:24122059 PMID:25262156 PMID:25741868 PMID:26467025 PMID:28492532 PMID:30429133 PMID:30719842 NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16123
    physical disorder 2479
      congenital myasthenic syndrome 89
        congenital myasthenic syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 16123
    disease of anatomical entity 15370
      nervous system disease 10975
        peripheral nervous system disease 2430
          neuropathy 2245
            neuromuscular disease 1766
              neuromuscular junction disease 116
                congenital myasthenic syndrome 89
                  congenital myasthenic syndrome 9 1
paths to the root