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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
 broad_synonym: SYT2-RELATED CONDITION
 xref: MIM:619461;   MONDO:0030341


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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 | ClinVar Annotator: match by term: SYT2-related condition 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    physical disorder 5170
      congenital myasthenic syndrome 190
        Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      nervous system disease 14257
        peripheral nervous system disease 4263
          neuropathy 4049
            neuromuscular disease 3191
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
paths to the root