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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:Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive
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Accession:DOID:9001976 term browser browse the term
Definition:This disease is characterized by severe generalized muscle weakness apparent from birth. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis.
Synonyms:exact_synonym: CMS7B
 primary_id: OMIM:619461
For additional species annotation, visit the Alliance of Genome Resources.



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Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 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, congenital, 7B, presynaptic, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:32250532 PMID:32776697 PMID:33659639 NCBI chr13:46,088,046...46,197,976
Ensembl chr13:46,185,282...46,193,859
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18030
    physical disorder 4045
      congenital myasthenic syndrome 134
        Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 18030
    disease of anatomical entity 17410
      nervous system disease 13079
        peripheral nervous system disease 2975
          neuropathy 2767
            neuromuscular disease 2186
              neuromuscular junction disease 162
                congenital myasthenic syndrome 134
                  Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
paths to the root