Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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;   RDO:0001517
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants           Sort by:
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 OMIM NCBI chr14:80,925,409...80,963,454
Ensembl chr14:80,926,654...80,958,478
JBrowse link
G Lrpprc leucine-rich pentatricopeptide repeat containing ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 10 ClinVar PMID:25326637 PMID:27408822 PMID:28492532 NCBI chr 6:7,984,043...8,066,874
Ensembl chr 6:7,984,019...8,066,868
JBrowse link

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 10 2
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 10 2
paths to the root