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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 21
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Accession:DOID:0110672 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (DO)
Synonyms:exact_synonym: CMS21;   congenital myasthenic syndrome 21, presynaptic
 primary_id: OMIM:617239
 alt_id: RDO:9001487
For additional species annotation, visit the Alliance of Genome Resources.

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congenital myasthenic syndrome 21 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic		 ClinVar PMID:25741868 PMID:27590285 NCBI chr16:8,576,858...8,686,131
Ensembl chr16:8,577,840...8,686,131 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 21, presynaptic		 ClinVar
OMIM		 PMID:25741868 PMID:27590285 NCBI chr16:8,682,668...8,685,529
Ensembl chr16:8,682,669...8,685,529 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      congenital myasthenic syndrome 87
        congenital myasthenic syndrome 21 2
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        peripheral nervous system disease 2425
          neuropathy 2243
            neuromuscular disease 1763
              neuromuscular junction disease 114
                congenital myasthenic syndrome 87
                  congenital myasthenic syndrome 21 2
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