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DOID:0110660 - congenital myasthenic syndrome 12
Disease Ontology Definition:A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13.
Synonyms: CMS12, congenital myasthenia 12 with tubular aggregates,
Xenbase Genes
:
gfpt1
| MONDO:0012518 - congenital myasthenic syndrome 12 |
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)