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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, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
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Accession:DOID:9008585 term browser browse the term
Synonyms:primary_id: MESH:C563829;   RDO:0012988
For additional species annotation, visit the Alliance of Genome Resources.


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Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link
G Chrnd cholinergic receptor nicotinic delta subunit ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:94,286,550...94,294,968
Ensembl chr 9:94,286,550...94,294,968
JBrowse link
G Musk muscle associated receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:75,392,790...75,498,694
Ensembl chr 5:75,392,790...75,498,694
JBrowse link
G Rapsn receptor-associated protein of the synapse ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
congenital myasthenic syndrome 11 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rapsn receptor-associated protein of the synapse ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:2245297 PMID:11791205 PMID:12651869 PMID:12730725 PMID:12796535 PMID:12807980 PMID:12929188 PMID:14504330 PMID:14659409 PMID:14729848 PMID:15036330 PMID:15145336 PMID:15282317 PMID:15286164 PMID:15328566 PMID:15482960 PMID:16931511 PMID:16945936 PMID:17190963 PMID:17594401 PMID:17686188 PMID:17878953 PMID:18179903 PMID:19620612 PMID:20157724 PMID:20562457 PMID:20930056 PMID:21228398 PMID:21305573 PMID:22326364 PMID:24033266 PMID:24319099 PMID:25194721 PMID:25264167 PMID:25741868 PMID:25741902 PMID:26147564 PMID:26467025 PMID:26782015 PMID:26910802 PMID:26927095 PMID:28492532 PMID:28495245 PMID:29053879 PMID:29054425 PMID:29189923 PMID:30124556 PMID:30266223 PMID:32070632 NCBI chr 3:79,859,815...79,869,486
Ensembl chr 3:79,860,179...79,869,524
JBrowse link
congenital myasthenic syndrome 2C term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrnb1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency ClinVar
OMIM
PMID:10562302 NCBI chr10:56,390,671...56,403,255
Ensembl chr10:56,390,671...56,403,188
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    physical disorder 2959
      congenital myasthenic syndrome 89
        Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
          congenital myasthenic syndrome 11 1
          congenital myasthenic syndrome 2C 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      nervous system disease 11871
        peripheral nervous system disease 2422
          neuropathy 2233
            neuromuscular disease 1779
              neuromuscular junction disease 116
                congenital myasthenic syndrome 89
                  Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency 4
                    congenital myasthenic syndrome 11 1
                    congenital myasthenic syndrome 2C 1
paths to the root