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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 14
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Accession:DOID:0110669 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: CMS14;   CMSTA3;   congenital myasthenic syndrome 14, with tubular aggregates;   congenital myasthenic syndrome with tubular aggregates 3
 primary_id: OMIM:616228
 alt_id: RDO:9001468
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 14 | ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 14, with tubular aggregates OMIM
ClinVar		 PMID:12684507 PMID:23404334 PMID:25741868 PMID:28492532 NCBI chr 5:61,768,738...61,773,297
Ensembl chr 5:61,768,740...61,773,297 		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 14 1
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 14 1
paths to the root