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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
 primary_id: OMIM:619461

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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 chr25:26,702,627...26,821,108
Ensembl chr25:26,808,007...26,817,314 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17472
    physical disorder 4817
      congenital myasthenic syndrome 190
        Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 17472
    disease of anatomical entity 14861
      nervous system disease 12945
        peripheral nervous system disease 4013
          neuropathy 3824
            neuromuscular disease 3009
              neuromuscular junction disease 217
                congenital myasthenic syndrome 190
                  Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive 1
paths to the root