Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:associatedWith |
CHRNE
|
| gptkbp:causedBy |
mutations in CHRNE gene
|
| gptkbp:hasOrphanetURL |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=98860
|
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:98860
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:name |
Congenital myasthenic syndrome 11
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
<1 / 1,000,000
|
| gptkbp:symptom |
respiratory distress
muscle weakness feeding difficulties ptosis ophthalmoplegia |
| gptkbp:synonym |
CMS11
Congenital myasthenic syndrome with acetylcholine receptor deficiency |
| gptkbp:bfsParent |
gptkb:acute_erythroid_leukemia
|
| gptkbp:bfsLayer |
6
|