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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;   SLC18A3-RELATED CONDITION;   congenital myasthenic syndrome 21, presynaptic
 primary_id: MIM:617239


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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: Congenital myasthenic syndrome 21 | ClinVar Annotator: match by term: SLC18A3-related condition ClinVar PMID:25741868 PMID:27590285 PMID:28492532 NCBI chr16:7,663,665...7,723,416
Ensembl chr16:7,663,665...7,723,416 		JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO ClinVar Annotator: match by term: Congenital myasthenic syndrome 21 | ClinVar Annotator: match by term: SLC18A3-related condition OMIM
ClinVar		 PMID:25741868 PMID:27590285 PMID:28492532 NCBI chr16:7,719,953...7,722,814 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19154
    physical disorder 5204
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 21 2
Path 2
Term Annotations click to browse term
  disease 19154
    disease of anatomical entity 18461
      nervous system disease 14368
        peripheral nervous system disease 4403
          neuropathy 4188
            neuromuscular disease 3230
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  congenital myasthenic syndrome 21 2
paths to the root