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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 12
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Accession:DOID:0110660 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (DO)
Synonyms:exact_synonym: CMS12;   CMSTA1;   Myasthenic Syndrome, Congenital, with Tubular Aggregates 1;   congenital myasthenia 12 with tubular aggregates
 primary_id: OMIM:610542
 alt_id: RDO:9000586
 xref: NCI:C168997


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congenital myasthenic syndrome 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfpt1 glutamine fructose-6-phosphate transaminase 1 ISO
ISS		 OMIM:610542
ClinVar Annotator: match by term: Congenital myasthenic syndrome 12 | ClinVar Annotator: match by term: MYASTHENIC SYNDROME, CONGENITAL, WITH TUBULAR AGGREGATES 1 | ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates		 OMIM
MouseDO
ClinVar		 PMID:8664562 PMID:9536098 PMID:12467753 PMID:16199547 PMID:17576681 More... NCBI chr 4:119,496,691...119,546,472
Ensembl chr 4:119,496,714...119,546,471 		JBrowse link
G Ryr1 ryanodine receptor 1 ISO ClinVar Annotator: match by term: Myasthenia, congenital, 12, with tubular aggregates ClinVar PMID:25741868 PMID:28492532 PMID:29635721 NCBI chr 1:84,292,578...84,423,824
Ensembl chr 1:84,292,578...84,423,812 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    physical disorder 4950
      congenital myasthenic syndrome 190
        congenital myasthenic syndrome 12 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        peripheral nervous system disease 4110
          neuropathy 3895
            neuromuscular disease 3052
              neuromuscular junction disease 220
                congenital myasthenic syndrome 190
                  congenital myasthenic syndrome 12 2
paths to the root