Medical Subject Headings

Last uploaded: August 28, 2024

Preferred Name	Myasthenic Syndromes, Congenital
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
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)
ID	http://purl.bioontology.org/ontology/MESH/D020294
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
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
cui	C0751882 C0751883 C0751885 C0751884
DC	1
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)
DX	20000101
FX	D009157
HN	2000
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
Inverse of RO	http://purl.bioontology.org/ontology/MESH/D009157
Machine permutation	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
MDA	19991108
MMR	20200527
MN	C10.668.758.800 C16.320.590
notation	D020294
prefLabel	Myasthenic Syndromes, Congenital
TERMUI	T372545 T372570 T372569 T000999141 T841187 T000999142 T372566 T841188 T372565 T372571 T358231 T000999143 T751805 T372567 T000999140 T372568 T372544 T372546
TH	OMIM (2013) NLM (2000) NLM (2021) GHR (2014) NLM (2014) ORD (2010)
tui	T047
subClassOf	http://purl.bioontology.org/ontology/MESH/D020511 http://purl.bioontology.org/ontology/MESH/D030342

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MDRFRE/10083942	MDRFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020294	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020294	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020294	MSHFRE	CUI
http://purl.bioontology.org/ontology/MSHFRE/D020294	MSHFRE	CUI
http://purl.bioontology.org/ontology/SNOMEDCT/230672006	SNOMEDCT	CUI
http://purl.bioontology.org/ontology/SCTSPA/230672006	SCTSPA	CUI
http://purl.bioontology.org/ontology/MDRGER/10083942	MDRGER	CUI
http://purl.bioontology.org/ontology/RCD/X00Ce	RCD	CUI
http://purl.bioontology.org/ontology/OMIM/MTHU068681	OMIM	CUI
http://purl.bioontology.org/ontology/NDFRT/N0000004099	NDFRT	CUI
http://purl.bioontology.org/ontology/MEDDRA/10083942	MEDDRA	CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D020294	RH-MESH	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.668.758.800	RH-MESH	LOOM
http://purl.obolibrary.org/obo/OMIT_0020196	OMIT	LOOM
http://purl.jp/bio/4/id/200906044320613799	IOBC	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00036717	PMAPP-PMO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C16.320.590	RH-MESH	LOOM