Statements (15)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:associatedWith |
UNC13A
|
| gptkbp:hasClinicalFeature |
hypotonia
muscle weakness feeding difficulties respiratory insufficiency |
| gptkbp:hasDisorderGroup |
gptkb:congenital_myasthenic_syndromes
|
| gptkbp:hasOrphanetName |
Congenital myasthenic syndrome 20, presynaptic, MUNC13-1-related
|
| https://www.w3.org/2000/01/rdf-schema#label |
Orphanet:99947
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:OMIM |
618197
|
| gptkbp:prevalence |
very rare
|
| gptkbp:synonym |
CMS20
|
| gptkbp:bfsParent |
gptkb:small_cell_lung_carcinoma
|
| gptkbp:bfsLayer |
7
|