Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/D020294 http://purl.bioontology.org/ontology/MESH/D020294
Preferred Name	Myasthenic Syndromes, Congenital
Definitions	A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
Synonyms	Congenital Myasthenias Congenital Slow Channel Myasthenic Syndrome Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome Congenital Slow-Channel Myasthenic Syndromes Syndrome, Congenital Myasthenic Postsynaptic Congenital Myasthenic Syndromes Slow Channel Congenital Myasthenic Syndromes Myasthenic Syndrome, Congenital Congenital Slow Channel Myasthenic Syndromes Postsynaptic Congenital Myasthenic Syndrome Syndromes, Congenital Myasthenic Slow-Channel Congenital Myasthenic Syndrome Myasthenias, Congenital Congenital Myasthenia Myasthenia Gravis, Congenital Slow Channel Congenital Myasthenic Syndrome Gravi, Congenital Myasthenia Presynaptic Congenital Myasthenic Syndromes Slow-Channel Congenital Myasthenic Syndromes Congenital Myasthenia Gravis Congenital Myasthenic Syndromes, Presynaptic Congenital Myasthenic Syndromes, Postsynaptic Myasthenic Syndromes, Congenital, Slow Channel Congenital Slow-Channel Myasthenic Syndrome Presynaptic Congenital Myasthenic Syndrome Myasthenia, Congenital Myasthenic Syndrome, Congenital, Slow-Channel See more See less
Type	http://www.w3.org/2002/07/owl#Class

definition	A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
altLabel	Congenital Myasthenias Congenital Slow Channel Myasthenic Syndrome Congenital Myasthenic Syndromes Congenital Myasthenic Syndrome Congenital Slow-Channel Myasthenic Syndromes Syndrome, Congenital Myasthenic Postsynaptic Congenital Myasthenic Syndromes Slow Channel Congenital Myasthenic Syndromes Myasthenic Syndrome, Congenital Congenital Slow Channel Myasthenic Syndromes Postsynaptic Congenital Myasthenic Syndrome Syndromes, Congenital Myasthenic Slow-Channel Congenital Myasthenic Syndrome Myasthenias, Congenital Congenital Myasthenia Myasthenia Gravis, Congenital Slow Channel Congenital Myasthenic Syndrome Gravi, Congenital Myasthenia Presynaptic Congenital Myasthenic Syndromes Slow-Channel Congenital Myasthenic Syndromes Congenital Myasthenia Gravis Congenital Myasthenic Syndromes, Presynaptic Congenital Myasthenic Syndromes, Postsynaptic Myasthenic Syndromes, Congenital, Slow Channel Congenital Slow-Channel Myasthenic Syndrome Presynaptic Congenital Myasthenic Syndrome Myasthenia, Congenital Myasthenic Syndrome, Congenital, Slow-Channel See more See less
prefLabel	Myasthenic Syndromes, Congenital
Machine permutation	2000
HN	2000
Mapped from	http://purl.bioontology.org/ontology/MESH/C566434 http://purl.bioontology.org/ontology/MESH/C565289 http://purl.bioontology.org/ontology/MESH/C563829 http://purl.bioontology.org/ontology/MESH/C563832 http://purl.bioontology.org/ontology/MESH/C563831 http://purl.bioontology.org/ontology/MESH/C563830 http://purl.bioontology.org/ontology/MESH/C563552 http://purl.bioontology.org/ontology/MESH/C536089 http://purl.bioontology.org/ontology/MESH/C564979 http://purl.bioontology.org/ontology/MESH/C566415 http://purl.bioontology.org/ontology/MESH/C565830 http://purl.bioontology.org/ontology/MESH/C567261 http://purl.bioontology.org/ontology/MESH/C537185 http://purl.bioontology.org/ontology/MESH/C536090 http://purl.bioontology.org/ontology/MESH/C536091 See more See less
type	http://www.w3.org/2002/07/owl#Class
tui	T047
TERMUI	T372545 T372570 T372569 T000999141 T841187 T000999142 T372566 T841188 T372565 T372571 T358231 T000999143 T751805 T372567 T000999140 T372568 T372544 T372546 See more See less
TH	OMIM (2013) NLM (2000) NLM (2021) GHR (2014) NLM (2014) ORD (2010) See more See less
MMR	20200527
notation	D020294
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D009157
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Inverse of AQ	http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000401 See more See less
FX	D009157
DX	20000101
cui	C0751882 C0751883 C0751885 C0751884
DC	1
MN	C10.668.758.800 C16.320.590
AN	do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers
AQL	BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI
MDA	19991012
subClassOf	http://purl.bioontology.org/ontology/MESH/D020511 http://purl.bioontology.org/ontology/MESH/D030342

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