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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 25
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Accession:DOID:9004718 term browser browse the term
Synonyms:exact_synonym: CMS25;   presynaptic congenital myasthenic syndrome 25
 primary_id: OMIM:618323


show annotations for term's descendants           Sort by:
Congenital Myasthenic Syndrome 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TAPBPL TAP binding protein like ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic ClinVar PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr27:38,526,968...38,534,585
Ensembl chr27:38,526,528...38,535,937 		JBrowse link
G VAMP1 vesicle associated membrane protein 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 25, presynaptic OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:25741868 PMID:26467025 PMID:28168212 More... NCBI chr27:38,518,978...38,526,361
Ensembl chr27:38,518,974...38,559,455 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    physical disorder 4881
      congenital myasthenic syndrome 190
        Congenital Myasthenic Syndrome 25 2
Path 2
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15149
      nervous system disease 13210
        peripheral nervous system disease 4042
          neuropathy 3847
            neuromuscular disease 3022
              neuromuscular junction disease 217
                congenital myasthenic syndrome 190
                  Congenital Myasthenic Syndrome 25 2
paths to the root