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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 15
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Accession:DOID:0110658 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. (DO)
Synonyms:exact_synonym: CMS15;   CMSWTA;   congenital myasthenic syndrome 15 without tubular aggregates;   congenital myasthenic syndrome without tubular aggregates
 primary_id: OMIM:616227
 alt_id: RDO:9001469
For additional species annotation, visit the Alliance of Genome Resources.



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congenital myasthenic syndrome 15 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg14 ALG14, UDP-N-acetylglucosaminyltransferase subunit ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 15 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:23404334 PMID:25741868 More... NCBI chr 2:209,368,285...209,445,425
Ensembl chr 2:209,368,312...209,445,431
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18154
    physical disorder 4193
      congenital myasthenic syndrome 133
        congenital myasthenic syndrome 15 1
Path 2
Term Annotations click to browse term
  disease 18154
    disease of anatomical entity 17529
      nervous system disease 13192
        peripheral nervous system disease 3019
          neuropathy 2805
            neuromuscular disease 2223
              neuromuscular junction disease 162
                congenital myasthenic syndrome 133
                  congenital myasthenic syndrome 15 1
paths to the root