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DOID:0110670 - congenital myasthenic syndrome 9
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.
Synonyms: CMS9, congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency,
Xenbase Genes
:
musk
| MONDO:0014587 - congenital myasthenic syndrome 9 |
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)