congenital myasthenic syndrome 6
Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner.
MONDO:0009688
myasthenia gravis
excluded_subClassOf
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0700466
presynaptic congenital myasthenic syndrome
is_a
CHAT congenital myasthenic syndrome
exact
CMS Ia2, formerly
related
CMS w/episodic apnea
related
CMS-ea
related
CMS1A
related
CMS1A2, formerly
related
CMS6
exact
CMSEA
exact
Cms Ia2
related
FIM
exact
FIM, formerly
related
FIMG2 (formerly)
related
FIMG2, formerly
related
congenital myasthenic syndrome 6
exact
congenital myasthenic syndrome caused by mutation in CHAT
exact
congenital myasthenic syndrome type 1a
related
congenital myasthenic syndrome type 6
exact
congenital myasthenic syndrome type Ia
related
congenital myasthenic syndrome type Ia2, formerly
related
congenital myasthenic syndrome with episodic apnea
related
myasthenia familial infantile
related
myasthenia gravis familial infantile 2 (formerly)
related
myasthenia gravis, familial infantile, 2
related
myasthenia gravis, familial infantile, 2, formerly
related
myasthenia, familial infantile
related
myasthenia, familial infantile, formerly
related
myasthenic syndrome congenital associated with episodic apnea
related
myasthenic syndrome, congenital, 6, presynaptic
related
myasthenic syndrome, congenital, associated with episodic apnea
related
myasthenic syndrome, presynaptic, congenital, associated with episodic apnea
related
presynaptic congenital myasthenic syndrome 6
exact