Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
|
| gptkbp:associatedWith |
CHRNE
|
| gptkbp:citation |
ICD-10:G70.0
MeSH:D054179 MedGen:C1859822 OMIM:608931 UMLS:C1859822 |
| gptkbp:hasOrphanetID |
99360
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:99360
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:name |
Congenital myasthenic syndrome 11
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
muscle weakness
ptosis fatigability bulbar symptoms ophthalmoparesis |
| gptkbp:synonym |
CMS11
Congenital myasthenic syndrome with acetylcholine receptor deficiency |
| gptkbp:bfsParent |
gptkb:acute_promyelocytic_leukemia
|
| gptkbp:bfsLayer |
6
|