Myasthenic Syndromes, Congenital

Disease ID: disease_node_10478

Connections displayed (default: 10).

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Dbxref	GARD:11902, MESH:D020294, MIM:PS601462, NCI:C84647, ORDO:590, SNOMEDCT_US_2023_03_01:230672006, UMLS_CUI:C0751882
Subclassof	DOID_0080015, DOID_439
Data Source	DOID, MESH
Mesh Id	D020294
Mesh Label	Myasthenic Syndromes, Congenital
Mesh Subclassof	D030342, D020511
Doid Label	congenital myasthenic syndrome
Doid Description	A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). Xref MGI.
Has Symptom	SYMP_0000094
Disease Node Id	disease_node_10478
Doid Id	DOID_3635
Disease Has Basis In	HP_0001197
Label	Myasthenic Syndromes, Congenital

Outgoing r'ship HAS_SYMPTOM to/from Muscle Weakness(ID:disease_node_9835;disease_node_21022) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Physical Disorder(ID:disease_node_13159) (Disease)
Outgoing r'ship SUBCLASS_OF to/from Neuromuscular Junction Diseases(ID:disease_node_10604) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 3C(ID:disease_node_14293) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 10(ID:disease_node_14289) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 2C(ID:disease_node_14277) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 13(ID:disease_node_14281) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 1B(ID:disease_node_14295) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 1A(ID:disease_node_14294) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 9(ID:disease_node_14287) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 18(ID:disease_node_14274) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 7(ID:disease_node_14299) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 12(ID:disease_node_14298) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 20(ID:disease_node_14296) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 14(ID:disease_node_14288) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 8(ID:disease_node_14301) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 19(ID:disease_node_14284) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 17(ID:disease_node_14283) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 15(ID:disease_node_14300) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 21(ID:disease_node_14285) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 11(ID:disease_node_14282) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 22(ID:disease_node_14297) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 4B(ID:disease_node_14280) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 16(ID:disease_node_14275) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 3B(ID:disease_node_14292) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 4C(ID:disease_node_14278) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 4A(ID:disease_node_14279) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 2A(ID:disease_node_14276) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 6(ID:disease_node_14286) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 5(ID:disease_node_14290) (Disease)
Incoming r'ship SUBCLASS_OF to/from Congenital Myasthenic Syndrome 3A(ID:disease_node_14291) (Disease)

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Myasthenic Syndromes, Congenital

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Disease Properties

Associated Connections 31

Disease Connections 31