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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 7
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Accession:DOID:0110659 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (DO)
Synonyms:exact_synonym: CMS7;   MYSPC;   congenital myasthenic syndrome 7 presynaptic;   congenital presynaptic myasthenic syndrome with or without motor neuropathy
 primary_id: OMIM:616040
 alt_id: RDO:9001489
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Syt2 synaptotagmin 2 ISO ClinVar Annotator: match by term: Myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 7, presynaptic
ClinVar
OMIM
PMID:25192047, PMID:25741868 NCBI chr13:51,569,248...51,577,824
Ensembl chr13:51,534,025...51,578,052
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        genetic disease 7871
          congenital myasthenic syndrome 87
            congenital myasthenic syndrome 7 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        peripheral nervous system disease 2500
          neuropathy 2320
            neuromuscular disease 1805
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 7 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.