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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 4A
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Accession:DOID:0110678 term browser browse the term
Definition:A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)
Synonyms:exact_synonym: CMS Ia1;   CMS1A1;   CMS4A;   Congenital Myasthenic Syndrome Type Ia1;   MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL;   Myasthenia, Familial Infantile, 1;   congenital myasthenic syndrometype Ia1
 primary_id: MESH:C565289
 alt_id: OMIM:605809;   RDO:0013968
For additional species annotation, visit the Alliance of Genome Resources.


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congenital myasthenic syndrome 4A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrne cholinergic receptor nicotinic epsilon subunit ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar Annotator: match by OMIM:605809
OMIM
ClinVar
PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 PMID:8663316 PMID:8755487 PMID:8872460 PMID:8957026 PMID:9097970 PMID:9158150 PMID:9443457 PMID:9539130 PMID:9606190 PMID:9668239 PMID:9708546 PMID:10211467 PMID:10382905 PMID:10496269 PMID:10514102 PMID:10534268 PMID:11030414 PMID:11960891 PMID:12141316 PMID:12417530 PMID:12536367 PMID:14592868 PMID:15322984 PMID:15367858 PMID:15951177 PMID:16087917 PMID:16198106 PMID:17878953 PMID:18414213 PMID:19064877 PMID:19153382 PMID:19289485 PMID:19544078 PMID:20562457 PMID:21175599 PMID:21520333 PMID:21822932 PMID:21940170 PMID:22382357 PMID:22678886 PMID:22865819 PMID:24033266 PMID:24295813 PMID:25326635 PMID:25741868 PMID:26467025 PMID:27634344 PMID:27779167 PMID:28024842 PMID:28464723 PMID:28492532 PMID:29054425 PMID:29383513 PMID:30124556 NCBI chr10:57,238,960...57,246,750
Ensembl chr10:57,238,946...57,243,435
JBrowse link
G Gp1ba glycoprotein Ib platelet subunit alpha ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,260,680...57,263,546
Ensembl chr10:57,260,680...57,263,546
JBrowse link
G LOC687707 hypothetical protein LOC687707 ISO ClinVar Annotator: match by term: Myasthenia, familial infantile, 1
ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel
ClinVar Annotator: match by term: CONGENITAL MYASTHENIC SYNDROME TYPE Ia1
ClinVar PMID:3651795 PMID:7531341 PMID:7538206 PMID:7863154 PMID:8232384 PMID:8755487 PMID:8872460 PMID:9158150 PMID:9708546 PMID:12141316 PMID:12417530 PMID:12536367 PMID:14592868 PMID:16198106 PMID:17878953 PMID:18414213 PMID:19153382 PMID:19289485 PMID:19544078 PMID:20562457 PMID:21520333 PMID:21822932 PMID:21940170 PMID:22382357 PMID:22678886 PMID:24033266 PMID:24295813 PMID:25741868 PMID:26467025 PMID:27779167 PMID:28464723 PMID:28492532 PMID:29054425 PMID:29383513 PMID:30124556 NCBI chr10:57,239,993...57,240,948
Ensembl chr10:57,239,993...57,240,947
JBrowse link
G Pfn1 profilin 1 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,273,003...57,275,708
Ensembl chr10:57,273,005...57,275,708
JBrowse link
G Rnf167 ring finger protein 167 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,268,331...57,272,667
Ensembl chr10:57,268,375...57,272,660
JBrowse link
G Slc25a11 solute carrier family 25 member 11 ISO ClinVar Annotator: match by term: Myasthenic syndrome, congenital, 4a, slow-channel ClinVar PMID:28492532 NCBI chr10:57,265,903...57,268,018
Ensembl chr10:57,265,704...57,268,081
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 4A 6
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 4A 6
paths to the root