ONKI3 | Medical Subject Headings

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The way property values are displayed: value/row values side by side

The way concept relations are shown: separately in hierarchy

Myasthenic Syndromes, Congenital

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Hierarchy:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Myasthenic Syndromes, Congenital 37 coordinate concepts ∟ Botulism \| ∟ Lambert-Eaton Myasthenic Syndrome \| ∟ Myasthenia Gravis \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Chromosome Disorders \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Hyperthyroxinemia, Familial Dysalbuminemic \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Metabolism, Inborn Errors \| ∟ Muscular Dystrophies \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neuromuscular Diseases ∟ Neuromuscular Junction Diseases ∟ Myasthenic Syndromes, Congenital 37 coordinate concepts ∟ Botulism \| ∟ Lambert-Eaton Myasthenic Syndrome \| ∟ Myasthenia Gravis \| ∟ Adrenal Hyperplasia, Congenital \| ∟ Anemia, Hemolytic, Congenital \| ∟ Anemia, Hypoplastic, Congenital \| ∟ Ataxia Telangiectasia \| ∟ Blood Coagulation Disorders, Inherited \| ∟ Brugada Syndrome \| ∟ CADASIL \| ∟ Camurati-Engelmann Syndrome \| ∟ Cardiomyopathy, Hypertrophic, Familial \| ∟ Cherubism \| ∟ Chromosome Disorders \| ∟ Cystic Fibrosis \| ∟ Dwarfism \| ∟ Eye Diseases, Hereditary \| ∟ Familial Mediterranean Fever \| ∟ Genetic Diseases, X-Linked \| ∟ Genetic Diseases, Y-Linked \| ∟ Hajdu-Cheney Syndrome \| ∟ Hemoglobinopathies \| ∟ Heredodegenerative Disorders, Nervous System \| ∟ Hyperthyroxinemia, Familial Dysalbuminemic \| ∟ Jervell-Lange Nielsen Syndrome \| ∟ Kallmann Syndrome \| ∟ Kartagener Syndrome \| ∟ Marfan Syndrome \| ∟ Metabolism, Inborn Errors \| ∟ Muscular Dystrophies \| ∟ Nail-Patella Syndrome \| ∟ Neoplastic Syndromes, Hereditary \| ∟ Osteogenesis Imperfecta \| ∟ Pain Insensitivity, Congenital \| ∟ Romano-Ward Syndrome \| ∟ Skin Diseases, Genetic \| ∟ Werner Syndrome X
Broader terms:	Medical Subject Headings (MeSH) ∟ Congenital, Hereditary, and Neonatal Diseases and Abnormalities ∟ Genetic Diseases, Inborn ∟ Myasthenic Syndromes, Congenital Medical Subject Headings (MeSH) ∟ Nervous System Diseases ∟ Neuromuscular Diseases ∟ Neuromuscular Junction Diseases ∟ Myasthenic Syndromes, Congenital Genetic Diseases, Inborn > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Medical Subject Headings (MeSH) Neuromuscular Junction Diseases > Neuromuscular Diseases > Nervous System Diseases > Medical Subject Headings (MeSH) X
Annotation:	do not confuse with MYASTHENIA GRAVIS, NEONATAL, a transient condition seen in neonates born to myasthenic mothers X
History note:	Myasthenia Gravis/congenital (1970-1999)X
historyNote*:	2000 X
publicMeSHNote*:	2000 X
Scope note:	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) X
activeMeSHYear*:	2002 \| 2003 \| 2004 \| 2005 \| 2006 \| 2007X
dateCreated*:	1999-11-08X
dateEstablished*:	2000-01-01X
dateRevised*:	2001-07-25X
recordAuthorizer*:	sjnX
recordMaintainer*:	nnsX
recordOriginator*:	KEVX
Related term:	Myasthenia Gravis X
Type:	Concept X
Coordinate terms:	Botulism \| Lambert-Eaton Myasthenic Syndrome \| Myasthenia Gravis \| Adrenal Hyperplasia, Congenital \| Anemia, Hemolytic, Congenital \| Anemia, Hypoplastic, Congenital \| Ataxia Telangiectasia \| Blood Coagulation Disorders, Inherited \| Brugada Syndrome \| CADASIL \| Camurati-Engelmann Syndrome \| Cardiomyopathy, Hypertrophic, Familial \| Cherubism \| Chromosome Disorders \| Cystic Fibrosis \| Dwarfism \| Eye Diseases, Hereditary \| Familial Mediterranean Fever \| Genetic Diseases, X-Linked \| Genetic Diseases, Y-Linked \| Hajdu-Cheney Syndrome \| Hemoglobinopathies \| Heredodegenerative Disorders, Nervous System \| Hyperthyroxinemia, Familial Dysalbuminemic \| Jervell-Lange Nielsen Syndrome \| Kallmann Syndrome \| Kartagener Syndrome \| Marfan Syndrome \| Metabolism, Inborn Errors \| Muscular Dystrophies \| Nail-Patella Syndrome \| Neoplastic Syndromes, Hereditary \| Osteogenesis Imperfecta \| Pain Insensitivity, Congenital \| Romano-Ward Syndrome \| Skin Diseases, Genetic \| Werner Syndrome X
URI:	X
Labels and equivalent concepts:	Synnynnäiset lihasheikkousoireyhtymät (fi) Kongenitaaliset myasteniasyndroomat (fi, replaced) Kongenitaaliset myasteniaoireyhtymät (fi, replaced) Kongenitaaliset myasteeniset syndroomat (fi, replaced) Synnynnäiset lihasheikkoussyndroomat (fi, replaced) Synnynnäiset myasteeniset oireyhtymät (fi, replaced) Synnynnäiset myasteniasyndroomat (fi, replaced) Synnynnäiset myasteniaoireyhtymät (fi, replaced) Synnynnäiset myasteeniset syndroomat (fi, replaced) Kongenitaaliset myasteeniset oireyhtymät (fi, replaced) Kongenitaaliset lihasheikkoussyndroomat (fi, replaced) Kongenitaaliset lihasheikkousoireyhtymät (fi, replaced) Myasthenia Gravis, Congenital (en, replaced) Congenital Slow-Channel Myasthenic Syndromes (en, replaced) Congenital Myasthenic Syndromes (en, replaced) Postsynaptic Congenital Myasthenic Syndromes (en, replaced) Presynaptic Congenital Myasthenic Syndromes (en, replaced) Slow-Channel Congenital Myasthenic Syndromes (en, replaced) Congenital Myasthenia Gravis (en, replaced) X
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