|
DOID:0110659 - congenital myasthenic syndrome 7
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32.
Synonyms: CMS7, congenital myasthenic syndrome 7 presynaptic,
Xenbase Genes
:
syt2
| MONDO:0014468 - congenital myasthenic syndrome 7 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
congenital myasthenic syndrome (is_a)