Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:associatedWith |
SLC5A7
|
| gptkbp:citation |
MeSH:D000071299
MedGen:C3808832 UMLS:C4317272 |
| gptkbp:disorderGroup |
gptkb:congenital_myasthenic_syndromes
|
| gptkbp:disorderSubGroup |
presynaptic congenital myasthenic syndromes
|
| gptkbp:hasClinicalFeature |
respiratory distress
muscle weakness ptosis fatigability bulbar weakness |
| https://www.w3.org/2000/01/rdf-schema#label |
ORPHA:98260
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:name |
Congenital myasthenic syndrome 14
|
| gptkbp:OMIM |
616313
|
| gptkbp:prevalence |
very rare
|
| gptkbp:synonym |
CMS14
|
| gptkbp:bfsParent |
gptkb:B_cell_lymphoma
|
| gptkbp:bfsLayer |
7
|