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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 10
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Accession:DOID:0110668 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p. (DO)
Synonyms:exact_synonym: CMS Ib;   CMS10;   LGM;   congenital myasthenic syndrome type Ib
 related_synonym: CMS Ib (formerly);   CMS1B (formerly);   LGM (formerly);   congenital myasthenic syndrome type IB (formerly);   myasthenic myopathy (formerly)
 primary_id: MESH:C536089
 alt_id: OMIM:254300
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 OMIM
ClinVar		 PMID:2261499 PMID:16794080 PMID:16917026 PMID:17439981 PMID:17452375 More... NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 10 ClinVar PMID:25326637 PMID:27408822 PMID:28492532 NCBI chr 6:9,859,867...9,942,294
Ensembl chr 6:9,859,867...9,942,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18032
    physical disorder 4045
      congenital myasthenic syndrome 134
        congenital myasthenic syndrome 10 2
Path 2
Term Annotations click to browse term
  disease 18032
    disease of anatomical entity 17412
      nervous system disease 13079
        peripheral nervous system disease 2974
          neuropathy 2766
            neuromuscular disease 2185
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  congenital myasthenic syndrome 10 2
paths to the root