Medical Subject Headings

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/MESH/C563829 http://purl.bioontology.org/ontology/MESH/C563829
Preferred Name	Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
Type	http://www.w3.org/2002/07/owl#Class

prefLabel	Myasthenic Syndrome, Congenital, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency
type	http://www.w3.org/2002/07/owl#Class
tui	T047
Has mapping qualifier	http://purl.bioontology.org/ontology/MESH/Q000172
HM	D019465 D020294 D011950/Q000172
SC	3
TERMUI	T828747
TH	OMIM (2013)
MMR	20131106
notation	C563829
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
cui	C1837092
MeSH Frequency	0
DSC	20121105
Inverse of RB	0
Mapped to	http://purl.bioontology.org/ontology/MESH/D019465 http://purl.bioontology.org/ontology/MESH/D020294 http://purl.bioontology.org/ontology/MESH/D011950
MDA	20121105

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